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
PYDC2_chr3_191456163_191466456	191463000	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	434	0.0023	19	c.15 others(30): Show c.1544_*1545insTTCTTTCTTTCTTTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1545		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463018	T T	TCTCTCTC others(12): Show TCTCTCTCTTTCTCTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	434	0.0023	19	c.15 others(30): Show c.1562_*1563insCTCTCTCTTTCTCTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1563		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTCTCTCT others(12): Show CTCTCTCTTCTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	434	0.0023	19	c.15 others(30): Show c.1564_*1565insTCTCTCTTCTCTCTTTCTT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1565		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463063	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	434	0.0023	19	c.16 others(30): Show c.1607_*1608insTTCTTTCTTTCTTTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1608		chr3	TogoVar
PYGB_chr20_25243085_25303012	25292259	C C	CGGGAGCG others(12): Show CGGGAGCGGGAGTGGGAGCA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0246 a0013c0016t0001g0246	1	372	0.0027	19	c.197 others(36): Show c.1970-142_1970-141insCGGGAGTGGGAGCAGGGAG	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(75): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03831.hp2 HG04115.hp1 NA18941.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18972.hp1 NA18983.hp2 NA18985.hp2 NA18992.hp1 NA19065.hp1 NA19066.hp1 NA19085.hp1 NA20752.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035 a0001c0001t0044 a0001c0001t0062 a0001c0001t0069 a0001c0001t0070 a0001c0001t0073 a0001c0001t0082 a0003c0005t0016 a0003c0005t0080	a0001c0001t0001g0103 a0001c0001t0002g0052 a0001c0001t0002g0104 others(74): Show a0001c0001t0001g0103 a0001c0001t0002g0052 a0001c0001t0002g0104 a0001c0001t0002g0202 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0260 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0305 a0001c0001t0002g0314 a0001c0001t0002g0354 a0001c0001t0002g0356 a0001c0001t0004g0010 a0001c0001t0004g0321 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0341 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0010g0124 a0001c0001t0013g0203 a0001c0001t0013g0204 a0001c0001t0013g0236 a0001c0001t0013g0238 a0001c0001t0013g0240 a0001c0001t0014g0221 a0001c0001t0014g0234 a0001c0001t0014g0235 a0001c0001t0014g0246 a0001c0001t0016g0118 a0001c0001t0016g0121 a0001c0001t0016g0122 a0001c0001t0018g0100 a0001c0001t0018g0110 a0001c0001t0018g0111 a0001c0001t0018g0112 a0001c0001t0021g0087 a0001c0001t0021g0178 a0001c0001t0021g0383 a0001c0001t0021g0384 a0001c0001t0023g0228 a0001c0001t0023g0244 a0001c0001t0023g0248 a0001c0001t0023g0249 a0001c0001t0024g0241 a0001c0001t0024g0263 a0001c0001t0024g0264 a0001c0001t0025g0012 a0001c0001t0025g0013 a0001c0001t0026g0014 a0001c0001t0026g0015 a0001c0001t0028g0277 a0001c0001t0028g0278 a0001c0001t0035g0175 a0001c0001t0044g0372 a0001c0001t0062g0229 a0001c0001t0069g0097 a0001c0001t0070g0342 a0001c0001t0073g0247 a0001c0001t0082g0398 a0003c0005t0016g0120 a0003c0005t0080g0397	78	412	0.1893	19	c.49+ others(36): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYM1_chr12_55896413_55932894	55905854	A A	ATATTAGA others(12): Show ATATTAGATATATATATATC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02055.hp2 others(3): Show HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02559.hp1 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0115 a0001c0001t0001g0125 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0126	6	344	0.0174	19	c.38- others(34): Show c.38-2393_38-2375dupGATATATATATATCTAATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(12): Show TTAGATATATATATATCTAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp2 others(50): Show HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01516.hp1 HG01978.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02293.hp2 HG03017.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03927.hp2 HG04199.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp2 NA18978.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19056.hp2 NA19063.hp2 NA19087.hp2 NA19091.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(35): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0192 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0055 a0001c0001t0003g0098 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0128 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0176	53	344	0.1541	19	c.38- others(34): Show c.38-2397_38-2396insTTAGATATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYROXD1_chr12_21432655_21476250	21455436	T T	TTCTATTT others(12): Show TTCTATTTTATATATATGTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0151 a0001c0001t0038g0151	1	416	0.0024	19	c.649 others(34): Show c.649+146_649+164dupCTATTTTATATATATGTAT	PYROXD1	ENSG00000121350.16	transcript	ENST00000240651.14	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYY_chr17_43947733_43958940	43947898	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03540.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	364	0.0055	19	c.50 others(30): Show c.5057_*5058insTTTTTTTTTTTTTTTTTTT	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		4834		chr17	TogoVar
PYY_chr17_43947733_43958940	43958135	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 NA18961.hp2 NA18967.hp1 others(1): Show HG03927.hp1 NA18961.hp2 NA18967.hp1 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	4	364	0.0110	19	c.-43 others(30): Show c.-4305_-4287dupTTTTTTTTTTTTTTTTTTT	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		4196		chr17	TogoVar
QARS1_chr3_49090932_49109757	49096798	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19076.hp2 HG00621.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	284	0.0070	19	c.227 others(36): Show c.2278-738_2278-720dupTTTTTTTTTTTTTTTTTTT	QARS1	ENSG00000172053.18	transcript	ENST00000306125.12	protein_coding	23/23			chr3	TogoVar
QKI_chr6_163409718_163583592	163581134	A A	AGTAAAAA others(12): Show AGTAAAAAGGCTACACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0199 a0001c0001t0077g0199	1	302	0.0033	19	c.10 others(32): Show c.10424_*10425insGTAAAAAGGCTACACACCC	QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding		2543		chr6	TogoVar
QRFP_chr9_130887707_130901812	130896682	G G	GGGGCTGA others(12): Show GGGGCTGAGCGCCCAGGTTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0110 a0001c0001t0030g0110	1	428	0.0023	19	c.-41 others(28): Show c.-410_-392dupGAACCTGGGCGCTCAGCCC	QRFP	ENSG00000188710.3	transcript	ENST00000623824.2	protein_coding	1/3	2845		chr9	TogoVar
QRFP_chr9_130887707_130901812	130897322	C C	CGCACCCC others(12): Show CGCACCCCTGTGCCCTGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	428	0.0023	19	c.-10 others(30): Show c.-1032_-1031insATGCAGGGCACAGGGGTGC	QRFP	ENSG00000188710.3	transcript	ENST00000623824.2	protein_coding		511		chr9	TogoVar
QRFP_chr9_130887707_130901812	130897337	T T	TGCATGCA others(12): Show TGCATGCACCCCTGTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG06807.hp2 HG02717.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0064 a0001c0002t0005g0062 a0001c0002t0003g0064 a0001c0002t0005g0062	2	428	0.0047	19	c.-10 others(30): Show c.-1047_-1046insGGGGCACAGGGGTGCATGC	QRFP	ENSG00000188710.3	transcript	ENST00000623824.2	protein_coding		526		chr9	TogoVar
QRFP_chr9_130887707_130901812	130897341	T T	TGCACCCC others(12): Show TGCACCCCTGTGCCCCGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	428	0.0023	19	c.-10 others(30): Show c.-1051_-1050insGTGCGGGGCACAGGGGTGC	QRFP	ENSG00000188710.3	transcript	ENST00000623824.2	protein_coding		530		chr9	TogoVar
QRFP_chr9_130887707_130901812	130897342	G G	GCACCCCT others(12): Show GCACCCCTGTGCCCCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0095 a0003c0005t0007g0095	1	428	0.0023	19	c.-10 others(30): Show c.-1052_-1051insTGTGCGGGGCACAGGGGTG	QRFP	ENSG00000188710.3	transcript	ENST00000623824.2	protein_coding		531		chr9	TogoVar
QRICH1_chr3_49024707_49099071	49087818	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG06807.hp1 NA20300.hp2 HG02886.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154	3	226	0.0133	19	c.-22 others(36): Show c.-22+6075_-22+6093dupTTTTTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	1/9			chr3	TogoVar
QRICH1_chr3_49024707_49099071	49096798	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	226	0.0044	19	c.-29 others(30): Show c.-2927_-2909dupTTTTTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding		2728		chr3	TogoVar
QRICH2_chr17_76269049_76313276	76284168	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02280.hp2 HG01106.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0188 a0003c0003t0001g0192 a0003c0003t0001g0188 a0003c0003t0001g0192	2	364	0.0055	19	c.401 others(38): Show c.4012-2072_4012-2054dupTTTTTTTTTTTTTTTTTTT	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18			chr17	TogoVar
QRICH2_chr17_76269049_76313276	76287043	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0213 a0003c0003t0001g0213	1	364	0.0028	19	c.401 others(36): Show c.4011+148_4011+149insGTGTGTGTGTGTGTGTGTG	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18			chr17	TogoVar
R3HDM1_chr2_135526484_135730269	135625060	C C	CCTGGACT others(12): Show CCTGGACTCCATCTCTAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0180 a0008c0007t0001g0180	1	232	0.0043	19	c.497 others(36): Show c.497+2329_497+2347dupCTGGACTCCATCTCTAAAG	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01361.hp2 others(16): Show HG01109.hp2 HG01243.hp2 HG01361.hp2 HG01515.hp2 HG02129.hp2 HG02723.hp2 HG02886.hp2 HG03927.hp1 HG04204.hp1 NA18940.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18965.hp1 NA18979.hp2 NA19063.hp1 NA19067.hp2 NA19080.hp1 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0003c0007t0001	a0001c0001t0001g0151 a0001c0001t0001g0225 a0001c0001t0001g0248 others(16): Show a0001c0001t0001g0151 a0001c0001t0001g0225 a0001c0001t0001g0248 a0001c0001t0001g0279 a0001c0001t0001g0310 a0001c0001t0001g0330 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0263 a0001c0001t0002g0324 a0001c0002t0001g0121 a0001c0002t0002g0088 a0001c0002t0002g0093 a0001c0002t0002g0100 a0001c0002t0002g0109 a0001c0002t0002g0127 a0001c0002t0005g0333 a0003c0007t0001g0110	19	336	0.0566	19	c.213 others(38): Show c.2132-1223_2132-1205dupTTTTTTTTTTTTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDML_chr20_44332043_44356238	44345829	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG00741.hp1 others(11): Show HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG02257.hp1 HG02602.hp2 HG02698.hp2 HG02809.hp2 HG02976.hp1 HG03540.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0003 a0003c0006 a0001c0007 a0002c0003 a0003c0006	a0001c0007t0002 a0002c0003t0002 a0002c0003t0003 others(1): Show a0001c0007t0002 a0002c0003t0002 a0002c0003t0003 a0003c0006t0002	a0001c0007t0002g0083 a0002c0003t0002g0008 a0002c0003t0002g0176 others(5): Show a0001c0007t0002g0083 a0002c0003t0002g0008 a0002c0003t0002g0176 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0003g0181 a0003c0006t0002g0008	14	434	0.0323	19	c.629 others(34): Show c.629+454_629+455insCTTTTTTTTTTTTTTTTTT	R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895260	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0133 a0014c0012t0001g0133	1	264	0.0038	19	c.371 others(36): Show c.371+3810_371+3811insTATATATATATATATATAT	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP3_chr16_420649_528011	462584	T T	TTTCTCCT others(12): Show TTTCTCCTCAGCACGATCCC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	295	0.0034	19	c.808 others(36): Show c.808+1090_808+1091insTCCTCAGCACGATCCCTTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	480286	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02970.hp1 others(2): Show HG02055.hp1 HG02615.hp2 HG02970.hp1 HG03209.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0015 a0001c0001t0024 a0001c0001t0033 others(2): Show a0001c0001t0015 a0001c0001t0024 a0001c0001t0033 a0001c0001t0056 a0002c0003t0011	a0001c0001t0015g0184 a0001c0001t0024g0129 a0001c0001t0033g0128 others(2): Show a0001c0001t0015g0184 a0001c0001t0024g0129 a0001c0001t0033g0128 a0001c0001t0056g0124 a0002c0003t0011g0102	5	295	0.0170	19	c.904 others(36): Show c.904-2237_904-2219dupAAAAAAAAAAAAAAAAAAA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP4_chr17_31386675_31543211	31391416	A A	ACGCGGAG others(12): Show ACGCGGAGGGAAACTGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	310	0.0032	19	c.-43 others(28): Show c.-437_-436insCGCGGAGGGAAACTGAGGT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding		258		chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31448392	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0170 a0001c0015t0002g0170	1	310	0.0032	19	c.336 others(38): Show c.336+14271_336+14289dupTTTTTTTTTTTTTTTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB15_chr14_64940816_64977336	64973893	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02559.hp1 others(7): Show HG01884.hp2 HG02280.hp2 HG02559.hp1 HG03098.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0005 a0001c0001t0006 a0001c0002t0005	a0001c0001t0006g0260 a0001c0002t0005g0006 a0001c0002t0005g0018 others(5): Show a0001c0001t0006g0260 a0001c0002t0005g0006 a0001c0002t0005g0018 a0001c0002t0005g0035 a0001c0002t0005g0036 a0001c0002t0005g0139 a0001c0002t0005g0141 a0001c0002t0005g0143	10	382	0.0262	19	c.-18 others(30): Show c.-1818_-1817insTTTTTTTTTTTTTTTTTTT	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1558		chr14	TogoVar
RAB17_chr2_237569326_237595734	237579728	A A	AGACAGAG others(12): Show AGACAGAGAACAGGAGGCTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(235): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18976.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0008 a0002c0003 others(15): Show a0001c0001 a0001c0008 a0002c0003 a0002c0005 a0002c0006 a0002c0022 a0003c0002 a0003c0016 a0004c0004 a0004c0012 a0004c0014 a0005c0007 a0006c0011 a0006c0013 a0006c0021 a0006c0023 a0007c0018 a0008c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(35): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0008t0003 a0001c0008t0008 a0002c0003t0002 a0002c0003t0006 a0002c0003t0011 a0002c0005t0002 a0002c0005t0004 a0002c0005t0006 a0002c0005t0010 a0002c0005t0013 a0002c0006t0002 a0002c0006t0012 a0002c0022t0008 a0003c0002t0002 a0003c0002t0004 a0003c0002t0005 a0003c0016t0004 a0004c0004t0005 a0004c0004t0015 a0004c0004t0020 a0004c0004t0022 a0004c0012t0005 a0004c0012t0007 a0004c0014t0005 a0005c0007t0003 a0005c0007t0008 a0005c0007t0011 a0006c0011t0005 a0006c0011t0021 a0006c0013t0005 a0006c0021t0005 a0006c0023t0007 a0007c0018t0002 a0008c0019t0005	a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0001t0003g0008 others(151): Show a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0024 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0011g0034 a0001c0001t0014g0226 a0001c0001t0014g0227 a0001c0008t0003g0012 a0001c0008t0003g0133 a0001c0008t0003g0135 a0001c0008t0008g0150 a0001c0008t0008g0151 a0001c0008t0008g0173 a0002c0003t0002g0005 a0002c0003t0002g0011 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0116 a0002c0003t0002g0118 a0002c0003t0002g0119 a0002c0003t0002g0121 a0002c0003t0002g0122 a0002c0003t0002g0124 a0002c0003t0002g0125 a0002c0003t0002g0127 a0002c0003t0002g0128 a0002c0003t0002g0161 a0002c0003t0002g0163 a0002c0003t0002g0202 a0002c0003t0006g0010 a0002c0003t0006g0050 a0002c0003t0006g0079 a0002c0003t0011g0028 a0002c0005t0002g0023 a0002c0005t0002g0037 a0002c0005t0002g0142 a0002c0005t0002g0165 a0002c0005t0004g0160 a0002c0005t0004g0170 a0002c0005t0006g0004 a0002c0005t0006g0104 a0002c0005t0006g0105 a0002c0005t0006g0106 a0002c0005t0006g0114 a0002c0005t0010g0033 a0002c0005t0010g0069 a0002c0005t0010g0070 a0002c0005t0013g0111 a0002c0006t0002g0006 a0002c0006t0002g0036 a0002c0006t0002g0048 a0002c0006t0002g0130 a0002c0006t0002g0131 a0002c0006t0002g0132 a0002c0006t0002g0134 a0002c0006t0002g0137 a0002c0006t0012g0047 a0002c0006t0012g0129 a0002c0022t0008g0139 a0003c0002t0002g0166 a0003c0002t0002g0187 a0003c0002t0002g0200 a0003c0002t0004g0014 a0003c0002t0004g0025 a0003c0002t0004g0026 a0003c0002t0004g0041 a0003c0002t0004g0043 a0003c0002t0004g0044 a0003c0002t0004g0045 a0003c0002t0004g0115 a0003c0002t0004g0167 a0003c0002t0004g0174 a0003c0002t0004g0175 a0003c0002t0004g0176 a0003c0002t0004g0177 a0003c0002t0004g0181 a0003c0002t0004g0182 a0003c0002t0004g0184 a0003c0002t0004g0185 a0003c0002t0004g0186 a0003c0002t0004g0188 a0003c0002t0004g0189 a0003c0002t0004g0190 a0003c0002t0004g0191 a0003c0002t0004g0192 a0003c0002t0004g0193 a0003c0002t0004g0196 a0003c0002t0004g0197 a0003c0002t0004g0198 a0003c0002t0004g0199 a0003c0002t0004g0201 a0003c0002t0004g0205 a0003c0002t0004g0218 a0003c0002t0004g0219 a0003c0002t0004g0232 a0003c0002t0004g0233 a0003c0002t0004g0234 a0003c0002t0004g0236 a0003c0002t0004g0237 a0003c0002t0004g0239 a0003c0002t0004g0248 a0003c0002t0005g0206 a0003c0016t0004g0204 a0004c0004t0005g0002 a0004c0004t0005g0009 a0004c0004t0005g0046 a0004c0004t0005g0169 a0004c0004t0005g0209 a0004c0004t0005g0213 a0004c0004t0005g0215 a0004c0004t0005g0217 a0004c0004t0005g0220 a0004c0004t0005g0222 a0004c0004t0005g0224 a0004c0004t0015g0049 a0004c0004t0020g0179 a0004c0004t0022g0216 a0004c0012t0005g0214 a0004c0012t0007g0212 a0004c0012t0007g0223 a0004c0014t0005g0144 a0004c0014t0005g0180 a0005c0007t0003g0042 a0005c0007t0003g0203 a0005c0007t0003g0207 a0005c0007t0003g0208 a0005c0007t0008g0015 a0005c0007t0008g0221 a0005c0007t0011g0067 a0006c0011t0005g0171 a0006c0011t0021g0149 a0006c0013t0005g0136 a0006c0013t0005g0138 a0006c0013t0005g0230 a0006c0021t0005g0228 a0006c0023t0007g0229 a0007c0018t0002g0120 a0008c0019t0005g0172	238	424	0.5613	19	c.158 others(36): Show c.158-1592_158-1574dupCAGCCTCCTGTTCTCTGTC	RAB17	ENSG00000124839.13	transcript	ENST00000264601.8	protein_coding	2/5			chr2	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01993.hp1 HG02273.hp1 others(5): Show HG01255.hp1 HG01993.hp1 HG02273.hp1 HG02300.hp1 HG02886.hp2 NA18947.hp1 NA18981.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0046 a0001c0001t0004 a0001c0001t0007 a0001c0001t0046	a0001c0001t0004g0019 a0001c0001t0007g0007 a0001c0001t0007g0054 others(3): Show a0001c0001t0004g0019 a0001c0001t0007g0007 a0001c0001t0007g0054 a0001c0001t0007g0058 a0001c0001t0007g0175 a0001c0001t0046g0224	8	410	0.0195	19	c.84 others(30): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB1A_chr2_65081854_65135106	65103304	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02818.hp2 HG03540.hp2 HG00735.hp1 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0219 a0001c0001t0001g0242 a0001c0001t0001g0245	3	340	0.0088	19	c.96+ others(34): Show c.96+1429_96+1430insGTTTTTTTTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	2/5			chr2	TogoVar
RAB20_chr13_110518066_110566722	110525559	T T	TTCTGAAC others(12): Show TTCTGAACCCCTGTCTGTAG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0193 a0001c0002t0002g0193	1	426	0.0024	19	c.173 others(36): Show c.173-1381_173-1363dupCTACAGACAGGGGTTCAGA	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB2A_chr8_60511987_60628644	60552001	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	358	0.0028	19	c.47- others(34): Show c.47-6839_47-6838insGTTTTTTTTTTTTTTTTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2A_chr8_60511987_60628644	60552001	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02129.hp2 NA18953.hp2 others(1): Show HG02056.hp2 HG02129.hp2 NA18953.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0061 others(1): Show a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0061 a0001c0001t0003g0063	4	358	0.0112	19	c.47- others(34): Show c.47-6850_47-6832dupTTTTTTTTTTTTTTTTTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB35_chr12_120090099_120121753	120110290	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG03195.hp1 HG02630.hp1 HG02723.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0291 a0001c0001t0010g0292 a0001c0001t0010g0293 a0001c0001t0010g0291 a0001c0001t0010g0292 a0001c0001t0010g0293	3	414	0.0073	19	c.53- others(34): Show c.53-1824_53-1823insAAAAAAAAAAAAAAAAAAA	RAB35	ENSG00000111737.12	transcript	ENST00000229340.10	protein_coding	1/5			chr12	TogoVar
RAB38_chr11_88108251_88180443	88164256	C C	CGGCGGGG others(12): Show CGGCGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0161 a0001c0001t0011g0161	1	420	0.0024	19	c.202 others(38): Show c.202+10926_202+10927insCCCCCCCCCCCCCCCCGCC	RAB38	ENSG00000123892.12	transcript	ENST00000243662.11	protein_coding	1/2			chr11	TogoVar
RAB3A_chr19_18191784_18209042	18201259	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00735.hp1 others(10): Show HG00544.hp2 HG00558.hp1 HG00735.hp1 HG00735.hp2 HG01175.hp2 HG01243.hp2 HG01952.hp1 HG02293.hp2 HG02451.hp1 HG04115.hp1 NA18906.hp1 NA18950.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0002t0003	a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0002g0072 others(8): Show a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0002g0072 a0001c0001t0005g0034 a0001c0001t0005g0076 a0001c0001t0005g0200 a0001c0001t0011g0074 a0001c0001t0011g0078 a0001c0001t0013g0077 a0001c0001t0017g0035 a0001c0002t0003g0075	13	370	0.0351	19	c.229 others(34): Show c.229-815_229-814insCTTTCTTTCTTTCTTTCTT	RAB3A	ENSG00000105649.10	transcript	ENST00000222256.9	protein_coding	2/4			chr19	TogoVar
RAB3B_chr1_51902956_51995700	51967521	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01071.hp2 HG00642.hp1 HG00642.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0016 a0001c0002t0031 a0001c0001t0005 a0001c0001t0016 a0001c0002t0031	a0001c0001t0005g0039 a0001c0001t0016g0032 a0001c0002t0031g0038 a0001c0001t0005g0039 a0001c0001t0016g0032 a0001c0002t0031g0038	3	62	0.0484	19	c.228 others(36): Show c.228+9368_228+9369insAAAAAAAAAAAAAAAAAAA	RAB3B	ENSG00000169213.7	transcript	ENST00000371655.4	protein_coding	2/4			chr1	TogoVar
RAB3C_chr5_58578075_58864394	58797368	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0130 a0001c0001t0019g0130	1	220	0.0046	19	c.372 others(38): Show c.372-27670_372-27669insTATATATATATATATATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4			chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135103035	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG02109.hp1 others(5): Show HG00621.hp1 HG00639.hp2 HG02109.hp1 HG02559.hp2 HG02622.hp1 HG02965.hp2 HG03209.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017	a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0003g0234 others(5): Show a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0006g0223 a0001c0001t0006g0274 a0001c0001t0016g0238 a0001c0001t0017g0224	8	280	0.0286	19	c.362 others(36): Show c.362+9344_362+9362dupTTTTTTTTTTTTTTTTTTT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3GAP2_chr1_220143293_220277453	220214946	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	378	0.0027	19	c.181 others(34): Show c.181-968_181-967insTATATATATATATATATAT	RAB3GAP2	ENSG00000118873.17	transcript	ENST00000358951.7	protein_coding	2/34			chr1	TogoVar
RAB40B_chr17_82649973_82703698	82682951	T T	TGGCTAAC others(12): Show TGGCTAACAAGGTAAAACCC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	338	0.0030	19	c.142 others(38): Show c.142+15485_142+15503dupGGGTTTTACCTTGTTAGCC	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB44_chr6_36692826_36738184	36727023	A A	ACTCCTGA others(12): Show ACTCCTGACCGCAAGTGATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01074.hp1 others(18): Show HG00280.hp1 HG00323.hp1 HG01074.hp1 HG01074.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG02155.hp2 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA19066.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0033 a0001c0001 a0016c0033	a0001c0001t0002 a0016c0033t0002 a0001c0001t0002 a0016c0033t0002	a0001c0001t0002g0029 a0001c0001t0002g0143 a0001c0001t0002g0144 others(18): Show a0001c0001t0002g0029 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0211 a0001c0001t0002g0224 a0001c0001t0002g0227 a0016c0033t0002g0029	21	428	0.0491	19	c.268 others(36): Show c.2682-547_2682-529dupACCGCAAGTGATCCTCCTG	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(12): Show ATATATATATATATATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0161 a0001c0001t0082g0161	1	382	0.0026	19	c.37 others(30): Show c.3792_*3793insATATATATATATATATTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0002 a0001c0001t0058g0002	1	382	0.0026	19	c.37 others(30): Show c.3792_*3793insATATATATATATATTTTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5IF_chr20_36600779_36617557	36609190	C C	CAGAACTA others(12): Show CAGAACTATATTACATACAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	398	0.0025	19	c.219 others(34): Show c.219-410_219-409insGAACTATATTACATACATA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73714207	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	354	0.0028	19	c.401 others(36): Show c.401+2043_401+2044insATATATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	5/7			chr11	TogoVar

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