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
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	396	0.0025	23	c.132 others(40): Show c.132-2663_132-2662insGTTTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0107 a0001c0001t0024g0107	1	396	0.0025	23	c.132 others(40): Show c.132-2669_132-2647dupTTTTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRC3_chr17_17967862_18021889	18019147	C C	CACACACA others(16): Show CACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	324	0.0031	23	c.24 others(34): Show c.2476_*2477insACACACACACACACACACACACA	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding		2259		chr17	TogoVar
DRC3_chr17_17967862_18021889	18019186	C C	CACACACA others(16): Show CACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	324	0.0031	23	c.25 others(34): Show c.2515_*2516insACACACACACACACACACACACA	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding		2298		chr17	TogoVar
DRD5_chr4_9776634_9789009	9777361	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	454	0.0022	23	c.-46 others(34): Show c.-4669_-4668insTTTTTTTTTTTTTTTTTTTTATT	DRD5	ENSG00000169676.6	transcript	ENST00000304374.4	protein_coding		4272		chr4	TogoVar
DRG2_chr17_18082948_18112969	18090407	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	418	0.0024	23	c.64+ others(38): Show c.64+2320_64+2321insATATATATATATATATATATATA	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12			chr17	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(16): Show TATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02451.hp1 others(4): Show HG01884.hp2 HG02055.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02976.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0025 others(1): Show a0001c0001 a0001c0003 a0001c0025 a0003c0006	a0001c0001t0003 a0001c0003t0003 a0001c0025t0003 others(1): Show a0001c0001t0003 a0001c0003t0003 a0001c0025t0003 a0003c0006t0003	a0001c0001t0003g0185 a0001c0001t0003g0257 a0001c0003t0003g0249 others(4): Show a0001c0001t0003g0185 a0001c0001t0003g0257 a0001c0003t0003g0249 a0001c0025t0003g0099 a0003c0006t0003g0087 a0003c0006t0003g0289 a0003c0006t0003g0290	7	322	0.0217	23	c.342 others(40): Show c.3420-522_3420-521insGGCGCATATATATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117780231	G G	GAAAGGAA others(16): Show GAAAGGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0054 a0001c0017t0003g0054	1	194	0.0052	23	c.364 others(38): Show c.364+261_364+262insTTCTTTCTTTCTTTCTTTCCTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116421463	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	366	0.0027	23	c.417 others(40): Show c.417-5110_417-5109insATATATATATATATATATATTTT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSP_chr6_7536671_7591714	7554125	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0313 a0001c0011t0001g0313	1	396	0.0025	23	c.171 others(40): Show c.171-1592_171-1591insACACACACACACACACACACACC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DST_chr6_56452996_56959830	56712090	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 homoSapiens_chm13v2.hp1 HG02683.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0032 a0001c0005t0001g0080 a0001c0005t0001g0032 a0001c0005t0001g0080	2	84	0.0238	23	c.688 others(40): Show c.688-7722_688-7721insTTTTTTTTTTTTTTTTTTTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	5/103			chr6	TogoVar
DST_chr6_56452996_56959830	56934560	T T	TTTTTATA others(16): Show TTTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0017 a0018c0021t0001g0017	1	84	0.0119	23	c.216 others(42): Show c.216+19224_216+19225insTATATATATATATATATATAAAA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DTD1_chr20_18583054_18771644	18649326	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	398	0.0025	23	c.477 others(42): Show c.477+21101_477+21123dupTTTTTTTTTTTTTTTTTTTTTTT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTL_chr1_212030748_212110013	212051442	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19054.hp2 NA19003.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0119 a0001c0001t0001g0121	2	364	0.0055	23	c.460 others(40): Show c.460+4047_460+4069dupTTTTTTTTTTTTTTTTTTTTTTT	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DTNB_chr2_25372243_25678577	25408538	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG02055.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0035 a0001c0002t0001g0158 a0001c0001t0001g0035 a0001c0002t0001g0158	2	168	0.0119	23	c.157 others(44): Show c.1575+10954_1575+10976dupTTTTTTTTTTTTTTTTTTTTTTT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	16/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25526395	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	168	0.0060	23	c.100 others(42): Show c.1001+5077_1001+5078insAAATATATATATATATATATATA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25526395	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02965.hp2 HG00621.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0141 a0001c0001t0001g0157	2	168	0.0119	23	c.100 others(42): Show c.1001+5077_1001+5078insAAAAATATATATATATATATATA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTX2_chr7_76456709_76510991	76498794	G G	GTGTGGAG others(16): Show GTGTGGAGGTGTGGGGGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00597.hp2 others(24): Show HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00733.hp1 HG01099.hp2 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp2 HG02922.hp2 HG02965.hp2 HG03209.hp2 HG04228.hp2 NA18612.hp2 NA18952.hp2 NA18960.hp2 NA18984.hp2 NA19043.hp2 NA19068.hp2 NA19074.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0003 a0002c0002 a0002c0007 others(6): Show a0001c0003 a0002c0002 a0002c0007 a0002c0008 a0002c0032 a0004c0006 a0004c0024 a0005c0026 a0008c0014	a0001c0003t0001 a0002c0002t0001 a0002c0007t0001 others(6): Show a0001c0003t0001 a0002c0002t0001 a0002c0007t0001 a0002c0008t0004 a0002c0032t0001 a0004c0006t0001 a0004c0024t0001 a0005c0026t0001 a0008c0014t0001	a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 others(24): Show a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0135 a0001c0003t0001g0144 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0002c0002t0001g0196 a0002c0002t0001g0202 a0002c0002t0001g0216 a0002c0007t0001g0260 a0002c0007t0001g0268 a0002c0008t0004g0134 a0002c0032t0001g0256 a0004c0006t0001g0115 a0004c0006t0001g0117 a0004c0006t0001g0118 a0004c0006t0001g0119 a0004c0024t0001g0159 a0005c0026t0001g0269 a0008c0014t0001g0210	27	280	0.0964	23	c.115 others(42): Show c.1150+1317_1150+1318insTGTGGAGGTGTGGGGGTGTGTGA	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	6/10			chr7	TogoVar
DUSP14_chr17_37484891_37518498	37509104	C C	CCATATAT others(16): Show CCATATATATATATATGTGTGTAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp1 HG02523.hp1 others(14): Show HG00621.hp1 HG02015.hp1 HG02523.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02965.hp1 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG03471.hp1 NA18947.hp1 NA18971.hp1 NA18981.hp2 NA19060.hp2 NA19087.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0014 a0001c0001t0001g0226 a0001c0001t0001g0232 others(12): Show a0001c0001t0001g0014 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0261 a0001c0001t0001g0313 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0382 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0005g0020 a0001c0001t0005g0283 a0001c0001t0008g0335	17	421	0.0404	23	c.-18 others(42): Show c.-180-1573_-180-1572insCATATATATATATATGTGTGTAT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2			chr17	TogoVar
DUSP14_chr17_37484891_37518498	37509104	C C	CCATATAT others(16): Show CCATATATATATATGTGTGTGTAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	421	0.0024	23	c.-18 others(42): Show c.-180-1573_-180-1572insCATATATATATATGTGTGTGTAT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2			chr17	TogoVar
DUSP14_chr17_37484891_37518498	37511585	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0286 a0001c0001t0005g0286	1	421	0.0024	23	c.-92 others(38): Show c.-92-578_-92-577insTTTTTTTTTTTTTTTTTTTTTTT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP14_chr17_37484891_37518498	37511937	A A	AGTTTTTT others(16): Show AGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18993.hp2 HG01168.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0162 a0001c0001t0002g0145 a0001c0001t0002g0162	2	421	0.0048	23	c.-92 others(38): Show c.-92-244_-92-243insGTTTTTTTTTTTTTTTTTTTTTT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	2/2			chr17	TogoVar
DUSP26_chr8_33586330_33605023	33590730	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02976.hp1 NA19043.hp1 HG00738.hp2 HG02976.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0114 a0001c0002t0003g0042 a0001c0002t0003g0114	3	420	0.0071	23	c.12 others(34): Show c.1282_*1283insAAAAAAAAAAAAAAAAAAAAAAA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		599		chr8	TogoVar
DUXA_chr19_57149021_57172485	57161324	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	446	0.0022	23	c.26- others(36): Show c.26-528_26-527insTTTTTTTTTTTTTTTTTTTTTTT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57165322	A A	ATATATAT others(16): Show ATATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	446	0.0022	23	c.25+ others(38): Show c.25+2096_25+2097insACATATATATATATATATATATA	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	446	0.0022	23	c.25+ others(38): Show c.25+2094_25+2095insATATATATATATATATATATATA	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DYDC1_chr10_80331105_80361755	80346444	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	366	0.0027	23	c.250 others(40): Show c.250-4106_250-4084dupAAAAAAAAAAAAAAAAAAAAAAA	DYDC1	ENSG00000170788.14	transcript	ENST00000372202.6	protein_coding	3/6			chr10	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(16): Show CTCCTCTCCTCTCCTCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01192.hp2 HG01358.hp1 others(11): Show HG00423.hp2 HG01192.hp2 HG01358.hp1 HG01981.hp1 HG02735.hp2 HG03225.hp1 HG03490.hp2 NA18612.hp2 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18989.hp2 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0175 others(11): Show a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0175 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0003g0181 a0001c0001t0003g0231 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124	14	290	0.0483	23	c.763 others(42): Show c.763+14217_763+14218insAGGAAGGAGAGGAGAGGAGAGGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101998879	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0043 a0001c0025t0043	a0001c0025t0043g0245 a0001c0025t0043g0245	1	280	0.0036	23	c.380 others(42): Show c.3805-1094_3805-1093insCTTTTTTTTTTTTTTTTTTTTTT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	16/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	101998880	T T	TTTTTTTT others(16): Show TTTTTTTTTTGTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02055.hp2 HG02109.hp2 others(5): Show HG00733.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0008 a0001c0010 a0001c0007 a0001c0008 a0001c0010	a0001c0007t0010 a0001c0008t0016 a0001c0010t0010 others(1): Show a0001c0007t0010 a0001c0008t0016 a0001c0010t0010 a0001c0010t0060	a0001c0007t0010g0270 a0001c0007t0010g0272 a0001c0008t0016g0273 others(5): Show a0001c0007t0010g0270 a0001c0007t0010g0272 a0001c0008t0016g0273 a0001c0010t0010g0165 a0001c0010t0010g0269 a0001c0010t0010g0271 a0001c0010t0010g0274 a0001c0010t0060g0164	8	280	0.0286	23	c.380 others(42): Show c.3805-1100_3805-1099insGTTTTTTTTTTTTGTTTTTTTTT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	16/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I2_chr2_171682469_171755158	171739696	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp2 HG02922.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	2	334	0.0060	23	c.153 others(42): Show c.1537-4352_1537-4351insCTCTCTCTCTCTTTTTTTTTTTT	DYNC1I2	ENSG00000077380.16	transcript	ENST00000397119.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(16): Show ATGTGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18950.hp2 NA18984.hp1 others(4): Show HG02886.hp2 NA18950.hp2 NA18984.hp1 NA19009.hp1 NA19072.hp2 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0296 others(4): Show a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0015g0052	7	336	0.0208	23	c.108 others(40): Show c.1080+505_1080+506insATATATATATATATATATACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(16): Show ATGTGTATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19075.hp2 NA19077.hp1 others(1): Show NA18956.hp2 NA19075.hp2 NA19077.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0020 others(1): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0020 a0001c0001t0003g0025	4	336	0.0119	23	c.108 others(40): Show c.1080+505_1080+506insATATATATATATATACATACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103309168	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	262	0.0038	23	c.114 others(44): Show c.11493+1339_11493+1361dupTTTTTTTTTTTTTTTTTTTTTTT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	78/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103417268	C C	CGGGGTTT others(16): Show CGGGGTTTCACCATGTTGGTCAGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0025 a0025	a0025c0043 a0025c0043	a0025c0043t0001 a0025c0043t0001	a0025c0043t0001g0068 a0025c0043t0001g0068	1	262	0.0038	23	c.123 others(46): Show c.12366+17420_12366+17442dupGGGGTTTCACCATGTTGGTCAG G	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	84/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103483022	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19043.hp1 NA19000.hp1 NA19043.hp1	a0001 a0028 a0001 a0028	a0001c0006 a0028c0066 a0001c0006 a0028c0066	a0001c0006t0001 a0028c0066t0001 a0001c0006t0001 a0028c0066t0001	a0001c0006t0001g0049 a0028c0066t0001g0205 a0001c0006t0001g0049 a0028c0066t0001g0205	2	262	0.0076	23	c.37 others(34): Show c.3769_*3770insAAAAAAAAAAAAAAAAAAAAAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding		3160		chr11	TogoVar
DYNC2I2_chr9_128628653_128661847	128649688	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0295 a0001c0005t0001g0295	1	368	0.0027	23	c.186 others(40): Show c.186+6852_186+6853insTTTTTTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128650527	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0070 a0001c0007t0001g0070	1	368	0.0027	23	c.186 others(40): Show c.186+6013_186+6014insATATATATATATATATATATATA	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128652759	A A	AAAATACT others(16): Show AAAATACTAAATTAGCCAGGCATG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	368	0.0027	23	c.186 others(40): Show c.186+3759_186+3781dupCATGCCTGGCTAATTTAGTATTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18953.hp2 NA19089.hp1 HG02258.hp1 NA18953.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0053 a0001c0001t0001g0183 a0001c0003t0001g0281 a0001c0001t0001g0053 a0001c0001t0001g0183 a0001c0003t0001g0281	3	368	0.0082	23	c.186 others(40): Show c.186+1183_186+1205dupTTTTTTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	23	c.75 others(32): Show c.757_*758insATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01952.hp1 NA21309.hp2 HG01255.hp2 HG01952.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0004 a0001c0001t0001g0006	3	396	0.0076	23	c.75 others(32): Show c.757_*758insAAATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02129.hp1 HG02735.hp1 others(1): Show HG02055.hp2 HG02129.hp1 HG02735.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	396	0.0101	23	c.75 others(32): Show c.757_*758insAAAAATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG02965.hp2 NA18947.hp2 HG01952.hp2 HG02965.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0040	3	396	0.0076	23	c.75 others(32): Show c.757_*758insAAAAAAATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02809.hp1 NA18747.hp1 others(1): Show HG02257.hp2 HG02809.hp1 NA18747.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	396	0.0101	23	c.75 others(32): Show c.757_*758insAAAAAAAAATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636070	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA20300.hp1 NA19006.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	396	0.0051	23	c.75 others(32): Show c.756_*757insTATATATATATATATATATATAT	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		403		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196317281	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTTGTGTGGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA20805.hp2 HG01257.hp2 HG01258.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0173 a0001c0001t0001g0037 a0001c0001t0001g0173	3	330	0.0091	23	c.113 others(38): Show c.113+758_113+759insCACACCACACAACACACACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317476	T T	TTGTGTGG others(16): Show TTGTGTGGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	330	0.0030	23	c.113 others(38): Show c.113+563_113+564insCACACACACACACACACCACACA	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp1 NA18964.hp2 others(1): Show HG01081.hp2 HG01891.hp1 NA18964.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0120 a0001c0001t0163 a0001c0001t0001 a0001c0001t0120 a0001c0001t0163	a0001c0001t0001g0043 a0001c0001t0001g0071 a0001c0001t0120g0215 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0071 a0001c0001t0120g0215 a0001c0001t0163g0171	4	350	0.0114	23	c.10+ others(40): Show c.10+19747_10+19769dupTTTTTTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479617	T T	TGTTTTTG others(16): Show TGTTTTTGTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0042 a0001c0001t0025g0042	1	350	0.0029	23	c.301 others(40): Show c.301-1021_301-1020insGTTTTTGTTTTTTTTTTTTTTTG	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11			chr21	TogoVar

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