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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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
DPP3_chr11_66475434_66514657	66512020	G G	GTGTATAT others(35): Show GTGTATATATATGTATATATATGTATATATATGTGTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03579.hp1 HG02622.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0176 a0001c0001t0001g0087 a0001c0001t0001g0176	2	348	0.0058	42	c.27 others(53): Show c.2769_*2770insTGTATATATATGTATATATATGTATATATATGTG TATATATA	DPP3	ENSG00000254986.8	transcript	ENST00000531863.6	protein_coding		2364		chr11	TogoVar
DPP6_chr7_154047398_154899285	154313685	G G	GTGTGTGT others(35): Show GTGTGTGTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	38	0.0263	42	c.244 others(63): Show c.244-132528_244-132527insGTGTGTATGTATATATATATATAT ATATATATATATATATAT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154666198	T T	TACATACA others(35): Show TACATACATATATGTGTGTATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0009 a0001c0010t0010g0009	1	38	0.0263	42	c.681 others(59): Show c.681-3161_681-3160insCATACATATATGTGTGTATATATATATA TATACACACATACA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP7_chr9_137105546_137119733	137114088	C C	CGACCCCC others(35): Show CGACCCCCGCCCGCGACCCCCGCCCGGCACCCGCGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	454	0.0022	42	c.322 others(55): Show c.322-61_322-60insACGGGGCACGCGGGTGCCGGGCGGGGGTCGCG GGCGGGGGTC	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114090	A A	ACCCCCGC others(35): Show ACCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGTGAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	454	0.0022	42	c.322 others(55): Show c.322-63_322-62insGTCACGGGGCACGCGGGTGCCGGGCGGGGTCG CGGGCGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114131	A A	ACCCCCGC others(35): Show ACCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18975.hp2 HG02145.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	454	0.0044	42	c.321 others(56): Show c.321+70_322-104dupGTCGCGGGGCACGCGGGTGCCGGGCGGGGTC GCGGGCGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114144	A A	ACCCCGCC others(35): Show ACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCGCCCGCGAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	454	0.0022	42	c.321 others(55): Show c.321+57_321+98dupGTCGCGGGCGGGGGTCGCGGGGCACGCGGGTG CCGGGCGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114213	A A	ACCCCCGC others(35): Show ACCCCCGCCCGCGACCCCGCCCGGCACCCACGTGCCCCGCGAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01069.hp2 others(38): Show HG00558.hp2 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG02055.hp2 HG02080.hp1 HG02129.hp1 HG02559.hp1 HG02602.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18945.hp2 NA18949.hp1 NA18961.hp1 NA18977.hp2 NA19011.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19084.hp1 NA19090.hp2	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0005 a0001c0001 a0001c0004 others(4): Show a0000c0005 a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0002c0008	a0000c0005t0001 a0001c0001t0001 a0001c0004t0001 others(4): Show a0000c0005t0001 a0001c0001t0001 a0001c0004t0001 a0001c0006t0003 a0001c0007t0001 a0001c0012t0001 a0002c0008t0001	a0000c0005t0001g0096 a0001c0001t0001g0004 a0001c0001t0001g0019 others(16): Show a0000c0005t0001g0096 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0004t0001g0064 a0001c0006t0003g0090 a0001c0007t0001g0094 a0001c0007t0001g0095 a0001c0012t0001g0034 a0002c0008t0001g0047	41	454	0.0903	42	c.321 others(55): Show c.321+29_321+30insGTCGCGGGGCACGTGGGTGCCGGGCGGGGTCG CGGGCGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114213	A A	ACCCCCGC others(35): Show ACCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCGAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02647.hp1 others(11): Show HG01891.hp2 HG02280.hp2 HG02647.hp1 HG02723.hp2 HG03130.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp1 NA18906.hp2 NA18962.hp1 NA18990.hp1 NA18995.hp2 NA19081.hp1 NA19084.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0001c0006 a0001c0025 others(2): Show a0001c0001 a0001c0006 a0001c0025 a0003c0013 a0014c0015	a0001c0001t0001 a0001c0006t0001 a0001c0025t0001 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0025t0001 a0003c0013t0001 a0014c0015t0001	a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0078 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0001g0119 a0001c0006t0001g0012 a0001c0025t0001g0141 a0003c0013t0001g0030 a0014c0015t0001g0049	14	454	0.0308	42	c.321 others(55): Show c.321+29_321+30insGTCGCGGGGCACGCGGGTGCCGGGCGGGGTCG CGGGCGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP8_chr15_65437467_65522689	65450025	T T	TAGCGCGA others(35): Show TAGCGCGATCTCAGCTGATCGCAACCTTTGCCTCCCCAGTTCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(102): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19081.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0007 a0001c0001 a0001c0008 a0002c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0001c0001t0043 a0001c0001t0045 a0001c0008t0001 a0002c0007t0001	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0093 others(102): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0006g0291 a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0023g0005 a0001c0001t0030g0272 a0001c0001t0031g0260 a0001c0001t0032g0199 a0001c0001t0033g0190 a0001c0001t0036g0270 a0001c0001t0037g0262 a0001c0001t0043g0117 a0001c0001t0045g0208 a0001c0008t0001g0266 a0002c0007t0001g0242	105	336	0.3125	42	c.252 others(59): Show c.2526+973_2526+974insTGAACTGGGGAGGCAAAGGTTGCGATCA GCTGAGATCGCGCT	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	19/19			chr15	TogoVar
DPP8_chr15_65437467_65522689	65450045	G G	GCAACCTT others(35): Show GCAACCTTTGCCTCCCCAGTTCAAGCGCGATCTCAGCTGATCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	336	0.0030	42	c.252 others(59): Show c.2526+953_2526+954insTGATCAGCTGAGATCGCGCTTGAACTGG GGAGGCAAAGGTTG	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	19/19			chr15	TogoVar
DPP9_chr19_4670227_4728842	4672110	C C	CGAATATA others(35): Show CGAATATATATTCGTATATTCATATATACGAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	314	0.0032	42	c.44 others(53): Show c.4453_*4454insATATATATATATTCGTATATATGAATATACGAAT ATATATTC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3116		chr19	TogoVar
DPY19L2_chr12_63553913_63673493	63592011	G G	GAGGGGAG others(35): Show GAGGGGAGGGGAGGGGAGGGGTAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02717.hp2 others(3): Show HG01884.hp2 HG02572.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp1 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0312 a0001c0007t0003g0313 a0001c0007t0003g0315 others(3): Show a0001c0007t0003g0312 a0001c0007t0003g0313 a0001c0007t0003g0315 a0001c0007t0003g0316 a0001c0007t0003g0317 a0001c0007t0003g0318	6	362	0.0166	42	c.158 others(61): Show c.1580+2075_1580+2076insACCCCTCCCCTCCCCTCCCCTACCCC TCCCCTCCCCTCCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPYD_chr1_97072743_97926034	97376887	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0017 a0003c0003t0002g0017	1	52	0.0192	42	c.197 others(61): Show c.1975-3244_1975-3243insTATATATATATATATATATATATACA CACACACACACACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	15/22			chr1	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(35): Show TATATATATATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0161 a0001c0006t0004g0161	1	232	0.0043	42	c.669 others(57): Show c.669+382_669+383insTATATATATACACACACACACACACACACA CACACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(35): Show TATATATATATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19004.hp1 HG02109.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0040 a0001c0002t0006g0130 a0001c0002t0002g0040 a0001c0002t0006g0130	2	232	0.0086	42	c.669 others(57): Show c.669+382_669+383insTATATATATATACACACACACACACACACA CACACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(35): Show TATATATATATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG02647.hp1 others(3): Show HG00280.hp2 HG00735.hp2 HG02647.hp1 HG02818.hp1 HG03139.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0146 others(3): Show a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0212 a0001c0002t0004g0230	6	232	0.0259	42	c.669 others(57): Show c.669+382_669+383insTATATATATATATACACACACACACACACA CACACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(35): Show TATATATATATATATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01256.hp2 HG01516.hp2 others(3): Show HG01168.hp2 HG01256.hp2 HG01516.hp2 HG01517.hp2 HG02083.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0017 others(1): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0017 a0001c0002t0019	a0001c0002t0002g0045 a0001c0002t0002g0082 a0001c0002t0002g0090 others(3): Show a0001c0002t0002g0045 a0001c0002t0002g0082 a0001c0002t0002g0090 a0001c0002t0006g0069 a0001c0002t0017g0159 a0001c0002t0019g0122	6	232	0.0259	42	c.669 others(57): Show c.669+382_669+383insTATATATATATATATACACACACACACACA CACACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(35): Show TATATATATATATATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp1 HG03492.hp2 HG00733.hp1 HG01256.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0096 a0001c0002t0002g0135 a0001c0002t0004g0142 a0001c0002t0002g0096 a0001c0002t0002g0135 a0001c0002t0004g0142	3	232	0.0129	42	c.669 others(57): Show c.669+382_669+383insTATATATATATATATATACACACACACACA CACACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(35): Show TATATATATATATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0058 a0001c0002t0020g0058	1	232	0.0043	42	c.669 others(57): Show c.669+382_669+383insTATATATATATATATATATATATATACACA CACACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0184 a0006c0008t0001g0184	1	384	0.0026	42	c.889 others(57): Show c.889-455_889-454insAATATATATATATATATATATATATATATA TATATATATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02132.hp1 NA19054.hp2 others(1): Show HG00558.hp2 HG02132.hp1 NA19054.hp2 NA19088.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0005 a0004c0003 a0005c0006 a0003c0005 a0004c0003 a0005c0006	a0003c0005t0001 a0004c0003t0001 a0005c0006t0001 a0003c0005t0001 a0004c0003t0001 a0005c0006t0001	a0003c0005t0001g0307 a0004c0003t0001g0228 a0004c0003t0001g0233 others(1): Show a0003c0005t0001g0307 a0004c0003t0001g0228 a0004c0003t0001g0233 a0005c0006t0001g0237	4	384	0.0104	42	c.889 others(57): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATATATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03041.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0001 a0003c0005t0003 a0003c0004t0001 a0003c0005t0003	a0003c0004t0001g0260 a0003c0005t0003g0261 a0003c0004t0001g0260 a0003c0005t0003g0261	2	384	0.0052	42	c.889 others(57): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATATACACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0186 a0007c0009t0001g0186	1	384	0.0026	42	c.889 others(57): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATATATACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DROSHA_chr5_31395494_31537093	31397451	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0080 a0001c0003t0003g0080	1	322	0.0031	42	c.39 others(53): Show c.3980_*3981insATATATATATATATATATATATATATATATATAT ATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3042		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02257.hp1 NA19007.hp2 HG00558.hp2 HG02257.hp1 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0003 a0001c0017t0001 a0001c0003t0003 a0001c0017t0001	a0001c0003t0003g0068 a0001c0003t0003g0075 a0001c0017t0001g0295 a0001c0003t0003g0068 a0001c0003t0003g0075 a0001c0017t0001g0295	3	322	0.0093	42	c.39 others(53): Show c.3979_*3980insTATATATATATATATATATATATATATATATATA TATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0258 a0002c0005t0001g0258	1	322	0.0031	42	c.342 others(59): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATATATTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0269 a0002c0005t0001g0269	1	322	0.0031	42	c.342 others(59): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATATATATTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31480178	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0274 a0002c0005t0001g0274	1	322	0.0031	42	c.207 others(61): Show c.2071+3375_2071+3376insTATATATATATATATATATATATATA TATATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	16/35			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117471760	G G	GCCACCCC others(35): Show GCCACCCCCTTTAACTGCAAGCTCATTGCCAGTGAACAGGACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01074.hp2 others(38): Show HG00642.hp1 HG00738.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0009 a0001c0011 others(22): Show a0001c0005 a0001c0009 a0001c0011 a0001c0013 a0001c0016 a0001c0017 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0030 a0001c0035 a0001c0047 a0001c0049 a0001c0051 a0002c0001 a0002c0002 a0002c0004 a0002c0006 a0002c0060 a0002c0062 a0002c0063 a0002c0064 a0002c0066 a0002c0069	a0001c0005t0004 a0001c0009t0001 a0001c0009t0002 others(30): Show a0001c0005t0004 a0001c0009t0001 a0001c0009t0002 a0001c0009t0003 a0001c0011t0004 a0001c0013t0004 a0001c0016t0001 a0001c0017t0004 a0001c0022t0001 a0001c0023t0001 a0001c0024t0002 a0001c0024t0003 a0001c0025t0003 a0001c0030t0003 a0001c0030t0004 a0001c0035t0003 a0001c0047t0002 a0001c0049t0004 a0001c0051t0002 a0002c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0004t0004 a0002c0006t0001 a0002c0006t0002 a0002c0006t0004 a0002c0060t0002 a0002c0062t0002 a0002c0063t0003 a0002c0064t0001 a0002c0066t0002 a0002c0069t0002	a0001c0005t0004g0085 a0001c0009t0001g0068 a0001c0009t0001g0069 others(38): Show a0001c0005t0004g0085 a0001c0009t0001g0068 a0001c0009t0001g0069 a0001c0009t0002g0019 a0001c0009t0002g0160 a0001c0009t0002g0180 a0001c0009t0003g0157 a0001c0011t0004g0064 a0001c0013t0004g0177 a0001c0016t0001g0044 a0001c0016t0001g0078 a0001c0017t0004g0009 a0001c0022t0001g0135 a0001c0023t0001g0062 a0001c0024t0002g0036 a0001c0024t0003g0073 a0001c0025t0003g0192 a0001c0030t0003g0183 a0001c0030t0004g0133 a0001c0035t0003g0170 a0001c0047t0002g0057 a0001c0049t0004g0049 a0001c0051t0002g0010 a0002c0001t0002g0175 a0002c0002t0001g0056 a0002c0002t0003g0013 a0002c0002t0004g0020 a0002c0004t0004g0151 a0002c0006t0001g0156 a0002c0006t0001g0164 a0002c0006t0001g0187 a0002c0006t0002g0088 a0002c0006t0004g0041 a0002c0006t0004g0149 a0002c0006t0004g0150 a0002c0060t0002g0193 a0002c0062t0002g0117 a0002c0063t0003g0153 a0002c0064t0001g0165 a0002c0066t0002g0070 a0002c0069t0002g0189	41	194	0.2113	42	c.295 others(59): Show c.2953+108_2953+109insGGTCCTGTTCACTGGCAATGAGCTTGCA GTTAAAGGGGGTGG	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	15/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117471760	G G	GCCACCCC others(35): Show GCCACCCCCTTTAACTGCAAGCTCATTGCCAGTGAACAGGATC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0004 a0003c0038t0004	a0003c0038t0004g0129 a0003c0038t0004g0129	1	194	0.0052	42	c.295 others(58): Show c.2953+67_2953+108dupGATCCTGTTCACTGGCAATGAGCTTGCAG TTAAAGGGGGTGG	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	15/32			chr11	TogoVar
DSG3_chr18_31442741_31483702	31444727	C C	CCACTCCC others(35): Show CCACTCCCGGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	346	0.0029	42	c.-31 others(53): Show c.-3151_-3150insCACTCCCGGGGGGGGGGGGAGGGGGGGGGGGGGG GGGGGGGG	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding		3013		chr18	TogoVar
DSG3_chr18_31442741_31483702	31450317	G G	GGGGAAAT others(35): Show GGGGAAATGGACACACCAGTATGACTAGCATGACAGTTTGCTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0001 a0009c0023t0001	a0009c0023t0001g0053 a0009c0023t0001g0053	1	346	0.0029	42	c.48+ others(57): Show c.48+2393_48+2434dupGGGAAATGGACACACCAGTATGACTAGCAT GACAGTTTGCTT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTD1_chr20_18583054_18771644	18708279	T T	TATATATA others(35): Show TATATATATTTTATATATATATTATATATTTTATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0155 a0001c0003t0001g0155	1	398	0.0025	42	c.478 others(61): Show c.478-35815_478-35814insATTTTATATATATATTATATATTTTA TATATATATAATATAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTX2_chr7_76456709_76510991	76486884	C C	CTGCTGCT others(35): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0027 a0011c0019t0001g0027	1	280	0.0036	42	c.908 others(59): Show c.908+3740_908+3741insTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTTTTGC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUS2_chr16_68018284_68084320	68020851	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATACGTATGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	234	0.0043	42	c.-25 others(53): Show c.-2599_-2598insTATATATATATATATATATATATATATATATACG TATGTATA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding		2432		chr16	TogoVar
DUSP22_chr6_287487_356355	343658	T T	TGTGTGCA others(35): Show TGTGTGCATGTTTGCGTGTGCATGTTTGCGTGTGCATGTTTGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG01070.hp1 others(37): Show HG00597.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01358.hp1 HG02683.hp2 HG02735.hp2 HG02897.hp2 HG03130.hp2 HG03490.hp1 HG03516.hp1 HG03688.hp1 HG03688.hp2 NA18522.hp2 NA18940.hp1 NA18943.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA19000.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0135 a0001c0002t0002g0136 others(36): Show a0001c0002t0002g0008 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192	40	221	0.1810	42	c.189 others(59): Show c.189-2195_189-2154dupGTGTGCATGTTTGCGTGTGCATGTTTGC GTGTGCATGTTTGC	DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
DVL1_chr1_1330278_1354418	1350228	A A	AGGGGGCC others(35): Show AGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGGAGTGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	344	0.0029	42	c.-11 others(53): Show c.-1164_-1163insCTCCTCACTCCCCCCCGTCGCTCCTGCCCCGTCC AGGCCCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		811		chr1	TogoVar
DXO_chr6_31964815_31977138	31975451	T T	TGTGTGTG others(35): Show TGTGTGTGTTGGTTTTTTTGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	433	0.0023	42	c.-35 others(53): Show c.-3530_-3529insCCCCCCCCCCCCCCCCCCCCCCCCAAAAAAACCA ACACACAC	DXO	ENSG00000204348.10	transcript	ENST00000337523.10	protein_coding		3314		chr6	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532485	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	336	0.0030	42	c.108 others(59): Show c.1080+500_1080+501insTATATATATATATATATATATATATATA TATATATATATATA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532505	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0284 a0001c0006t0005g0284	1	336	0.0030	42	c.108 others(59): Show c.1080+480_1080+481insCATATATATATATATATATATATATATA TATATATATATATA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC2I1_chr7_158851558_158951189	158917457	T T	TCCTCCAC others(35): Show TCCTCCACACTCCACCCTCCGCCTCTCGCTAAACACCCCCTGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0020 a0020	a0020c0011 a0020c0011	a0020c0011t0001 a0020c0011t0001	a0020c0011t0001g0038 a0020c0011t0001g0038	1	274	0.0037	42	c.179 others(61): Show c.1792-1264_1792-1263insGCCTCTCGCTAAACACCCCCTGCCCT CCACACTCCACCCTCC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158917541	T T	TCCTCCAC others(35): Show TCCTCCACACTCCACCCTCCGCCTCTCGCTAAACACCCCCTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00621.hp2 others(88): Show HG00099.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01433.hp2 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG03453.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18974.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0009 a0018	a0001c0001 a0001c0012 a0002c0002 others(4): Show a0001c0001 a0001c0012 a0002c0002 a0004c0004 a0008c0008 a0009c0007 a0018c0025	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0012t0002 a0002c0002t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0008c0008t0003 a0008c0008t0020 a0009c0007t0003 a0018c0025t0002	a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 others(88): Show a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0013g0118 a0001c0012t0002g0167 a0002c0002t0001g0095 a0004c0004t0001g0170 a0004c0004t0002g0192 a0004c0004t0002g0193 a0004c0004t0006g0200 a0004c0004t0006g0201 a0008c0008t0003g0226 a0008c0008t0020g0228 a0009c0007t0003g0227 a0009c0007t0003g0229 a0018c0025t0002g0149	91	274	0.3321	42	c.179 others(61): Show c.1792-1179_1792-1138dupGCCTCTCGCTAAACACCCCCTGCCCT CCACACTCCACCCTCC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I2_chr9_128628653_128661847	128650541	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03579.hp1 HG01891.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0289 a0001c0003t0001g0290	2	368	0.0054	42	c.186 others(59): Show c.186+5999_186+6000insCATATATATATATATATATATATATATA TATATATATATATA	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	396	0.0025	42	c.75 others(51): Show c.757_*758insAATATATATATATATATATATATATATATATATATA TATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	350	0.0029	42	c.10+ others(59): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(35): Show GTTTTTGTTTTTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0029 a0001c0001t0072g0029	1	350	0.0029	42	c.301 others(59): Show c.301-1021_301-1020insGTTTTTGTTTTTGTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(35): Show GTTTTTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	350	0.0029	42	c.301 others(59): Show c.301-1021_301-1020insGTTTTTGTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71530040	A A	ATGCAGAT others(35): Show ATGCAGATTTTAAACTCGTTCATGTGGAGGTGTAAATGCTTAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03017.hp2 HG03490.hp2 others(1): Show HG01255.hp2 HG03017.hp2 HG03490.hp2 NA20129.hp1	a0001 a0015 a0001 a0015	a0001c0004 a0001c0005 a0001c0013 others(1): Show a0001c0004 a0001c0005 a0001c0013 a0015c0033	a0001c0004t0001 a0001c0005t0001 a0001c0013t0001 others(1): Show a0001c0004t0001 a0001c0005t0001 a0001c0013t0001 a0015c0033t0001	a0001c0004t0001g0149 a0001c0005t0001g0056 a0001c0013t0001g0057 others(1): Show a0001c0004t0001g0149 a0001c0005t0001g0056 a0001c0013t0001g0057 a0015c0033t0001g0064	4	192	0.0208	42	c.128 others(61): Show c.1284+1647_1284+1688dupTTTAAACTCGTTCATGTGGAGGTGTA AATGCTTACTGCAGAT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	13/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71530040	A A	ATGCAGAT others(35): Show ATGCAGATTTTAAACTCGTTCATGTGGAGGTGTAAATGCTTAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03017.hp1 HG03490.hp1 others(1): Show HG01255.hp2 HG03017.hp1 HG03490.hp1 NA20129.hp2	a0001 a0016 a0001 a0016	a0001c0005 a0001c0009 a0001c0074 others(1): Show a0001c0005 a0001c0009 a0001c0074 a0016c0036	a0001c0005t0001 a0001c0009t0001 a0001c0074t0001 others(1): Show a0001c0005t0001 a0001c0009t0001 a0001c0074t0001 a0016c0036t0001	a0001c0005t0001g0087 a0001c0009t0001g0089 a0001c0074t0001g0094 others(1): Show a0001c0005t0001g0087 a0001c0009t0001g0089 a0001c0074t0001g0094 a0016c0036t0001g0115	4	208	0.0192	42	c.138 others(61): Show c.1380+1647_1380+1688dupTTTAAACTCGTTCATGTGGAGGTGTA AATGCTTACTGCAGAT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	14/55		INFO_REALIGN_3_PRIME	chr2	TogoVar

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