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
DTNA_chr18_34705298_34896844	34790549	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0017 a0001c0002t0003g0017	1	112	0.0089	28	c.149 others(45): Show c.149-3469_149-3468insATATATATATATATATATATATATATAT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTWD1_chr15_49616048_49661232	49633043	C C	CTATATAT others(21): Show CTATATATATCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18983.hp1 NA18964.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0069 a0001c0001t0003g0070	2	342	0.0059	28	c.408 others(43): Show c.408+746_408+747insATATCTATATATATATATATATATATAT	DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
DTWD1_chr15_49616048_49661232	49633049	C C	CTATATCT others(21): Show CTATATCTATATATATATATATATATCTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02818.hp2 others(2): Show HG02055.hp2 HG02572.hp2 HG02818.hp2 HG03098.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0021 a0001c0001t0006g0117 a0001c0001t0006g0120	5	342	0.0146	28	c.408 others(43): Show c.408+752_408+753insCTATATATATATATATATATCTATATAT	DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
DTWD2_chr5_118831074_118993547	118843371	G G	GAGGAAGG others(21): Show GAGGAAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02630.hp1 others(6): Show HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02895.hp2 HG02922.hp1 HG03195.hp1 HG03225.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0026 a0001c0001t0007 a0001c0001t0026	a0001c0001t0007g0141 a0001c0001t0007g0208 a0001c0001t0007g0209 others(6): Show a0001c0001t0007g0141 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0007g0211 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0026g0212	9	242	0.0372	28	c.727 others(45): Show c.727-2285_727-2284insTCCTTCCTTCCTTCCTCCCTCCCTTCCT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	5/5			chr5	TogoVar
DTWD2_chr5_118831074_118993547	118945774	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02976.hp2 HG01255.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0018 a0001c0001t0016g0232 a0001c0001t0003g0018 a0001c0001t0016g0232	2	242	0.0083	28	c.219 others(45): Show c.219-1153_219-1126dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5			chr5	TogoVar
DTX2_chr7_76456709_76510991	76498794	G G	GGGTGTGT others(21): Show GGGTGTGTGGAGGTGTGGGGGGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02056.hp2 HG01496.hp2 HG02056.hp2	a0002 a0002	a0002c0007 a0002c0028 a0002c0007 a0002c0028	a0002c0007t0001 a0002c0028t0001 a0002c0007t0001 a0002c0028t0001	a0002c0007t0001g0259 a0002c0028t0001g0258 a0002c0007t0001g0259 a0002c0028t0001g0258	2	280	0.0071	28	c.115 others(47): Show c.1150+1336_1150+1337insGGTGTGTGAGGTGTGTGGAGGTGTGG GG	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX2_chr7_76456709_76510991	76498809	T T	TGGGGGTG others(21): Show TGGGGGTGTGTGAGGTGTGTGGAGGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04199.hp2 HG00544.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0031 a0002c0017 a0001c0031 a0002c0017	a0001c0031t0001 a0002c0017t0001 a0001c0031t0001 a0002c0017t0001	a0001c0031t0001g0273 a0002c0017t0001g0188 a0001c0031t0001g0273 a0002c0017t0001g0188	2	280	0.0071	28	c.115 others(47): Show c.1150+1336_1150+1337insGTGTGTGAGGTGTGTGGAGGTGTGGG GG	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX3L_chr3_122559338_122580203	122579999	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	472	0.0021	28	c.82 others(39): Show c.8252_*8253insTATATATATATATATATATATATATATA	DTX3L	ENSG00000163840.10	transcript	ENST00000296161.9	protein_coding		4797		chr3	TogoVar
DTX4_chr11_59167132_59213588	59206508	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp2 NA19077.hp1 NA18982.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0007 a0001c0001t0031g0007	2	390	0.0051	28	c.15 others(39): Show c.1599_*1600insATATATATATATATATATATATATATAT	DTX4	ENSG00000110042.8	transcript	ENST00000227451.4	protein_coding	9/9	1600		chr11	TogoVar
DUOX1_chr15_45124994_45170574	45142767	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG01257.hp2 others(28): Show HG00423.hp1 HG00735.hp1 HG01257.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02074.hp1 HG02083.hp1 HG02280.hp2 HG02622.hp2 HG02647.hp1 HG02735.hp2 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 NA18612.hp2 NA18948.hp1 NA18956.hp2 NA18960.hp2 NA18965.hp1 NA18987.hp1 NA18999.hp2 NA19000.hp1 NA19054.hp2 NA19068.hp1 NA19074.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0017 others(3): Show a0001c0001 a0001c0009 a0001c0017 a0001c0035 a0001c0037 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0009t0004 a0001c0017t0004 a0001c0035t0001 a0001c0037t0001 a0002c0002t0003 a0002c0002t0005	a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0210 others(28): Show a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0262 a0001c0001t0001g0280 a0001c0001t0004g0084 a0001c0001t0006g0161 a0001c0009t0004g0070 a0001c0009t0004g0071 a0001c0009t0004g0072 a0001c0017t0004g0158 a0001c0035t0001g0240 a0001c0037t0001g0020 a0002c0002t0003g0025 a0002c0002t0003g0037 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0212 a0002c0002t0003g0253 a0002c0002t0003g0258 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0335 a0002c0002t0005g0038 a0002c0002t0005g0042 a0002c0002t0005g0043 a0002c0002t0005g0046 a0002c0002t0005g0047 a0002c0002t0005g0064 a0002c0002t0005g0189	31	386	0.0803	28	c.182 others(45): Show c.1823-402_1823-401insAAGGAAGGAAGGAAGGAAGGAAGGAAGG	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	15/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
DUS2_chr16_68018284_68084320	68020853	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	234	0.0043	28	c.-25 others(39): Show c.-2597_-2596insTATATATATATATATATATATATATACG	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding		2430		chr16	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20805.hp1 HG02622.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0055 a0001c0001t0008 a0001c0001t0055	a0001c0001t0008g0277 a0001c0001t0055g0276 a0001c0001t0008g0277 a0001c0001t0055g0276	2	352	0.0057	28	c.-36 others(47): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGTGTGTG TG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(21): Show TCACACACCCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp2 HG02723.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0266 a0001c0001t0014g0267 a0001c0001t0014g0266 a0001c0001t0014g0267	2	352	0.0057	28	c.-36 others(47): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGGGTGTG TG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP22_chr6_287487_356355	343658	T T	TGTGTGCA others(21): Show TGTGTGCATGTTTGCGTGTGCATGTTTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02056.hp2 HG02129.hp2 others(7): Show HG00438.hp1 HG02056.hp2 HG02129.hp2 HG02970.hp1 HG03041.hp2 NA18942.hp1 NA18959.hp1 NA18964.hp1 NA18968.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0144 a0001c0002t0002g0145 others(6): Show a0001c0002t0002g0009 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0149 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0160 a0001c0002t0002g0175 a0001c0002t0002g0177	10	221	0.0453	28	c.189 others(45): Show c.189-2181_189-2154dupGTGTGCATGTTTGCGTGTGCATGTTTGC	DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
DUSP26_chr8_33586330_33605023	33587567	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02615.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0098 a0001c0001t0001g0034 a0001c0001t0001g0098	2	420	0.0048	28	c.44 others(39): Show c.4445_*4446insGAAAAAGAAAGAAAGAAAGAAAGAAAGA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		3762		chr8	TogoVar
DUSP26_chr8_33586330_33605023	33590730	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0113 a0001c0002t0003g0113	1	420	0.0024	28	c.12 others(39): Show c.1282_*1283insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		599		chr8	TogoVar
DUSP26_chr8_33586330_33605023	33597882	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02615.hp2 HG02965.hp2 others(8): Show HG00408.hp1 HG02615.hp2 HG02965.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03669.hp1 HG04228.hp1 NA19012.hp2 NA19055.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0097 others(6): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0011g0104	11	420	0.0262	28	c.-76 others(43): Show c.-76-319_-76-292dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar
DUSP29_chr10_75032472_75078642	75074317	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0278 a0003c0003t0001g0278	1	368	0.0027	28	c.-78 others(37): Show c.-784_-783insATATATATATATATATATATATATATAT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		676		chr10	TogoVar
DUXA_chr19_57149021_57172485	57155646	A A	AAGATAGA others(21): Show AAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp2 HG01070.hp1 others(37): Show HG00408.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG02015.hp1 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18946.hp1 NA18949.hp2 NA18962.hp2 NA18991.hp2 NA19009.hp2 NA19043.hp2 NA19080.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0003c0002t0001 a0001c0001t0001 a0001c0001t0002 a0003c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0100 others(33): Show a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0100 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0194 a0001c0001t0001g0247 a0001c0001t0001g0262 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0391 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0002g0176 a0001c0001t0002g0190 a0001c0001t0002g0231 a0001c0001t0002g0240 a0001c0001t0002g0267 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0332 a0001c0001t0002g0337 a0001c0001t0002g0341 a0001c0001t0002g0362 a0001c0001t0002g0389 a0001c0001t0002g0396 a0001c0001t0002g0398 a0003c0002t0001g0349	40	446	0.0897	28	c.439 others(43): Show c.439-302_439-275dupATCTATCTATCTATCTATCTATCTATCT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	4/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	446	0.0022	28	c.25+ others(43): Show c.25+2094_25+2095insATATATATATATATATATATATATATAT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57172002	C C	CGAGGGGG others(21): Show CGAGGGGGGCGGGGGCCGCGAGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03225.hp2 HG02622.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	446	0.0045	28	c.-45 others(39): Show c.-4560_-4559insCGCCCCCCTCGCGGCCCCCGCCCCCCTC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4518		chr19	TogoVar
DVL2_chr17_7220342_7239517	7233087	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0158 a0001c0003t0002g0158	1	406	0.0025	28	c.194 others(43): Show c.194+981_194+982insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/14			chr17	TogoVar
DYM_chr18_49031387_49465645	49145134	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	290	0.0035	28	c.172 others(49): Show c.1728+18550_1728+18551insTTATATATATATATATATATATAT ATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49252216	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0269 a0001c0001t0005g0269	1	290	0.0035	28	c.146 others(47): Show c.1460+4793_1460+4794insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(21): Show CTCCTCTCCTCTCCTCTCCTCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01515.hp2 HG01517.hp2 others(1): Show HG01168.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0006g0158 others(1): Show a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0006g0158 a0001c0001t0006g0180	4	290	0.0138	28	c.763 others(47): Show c.763+14217_763+14218insAGGAAGGAGAGGAGAGGAGAGGAGAG GA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440655	A A	ATATATTA others(21): Show ATATATTATATATTTATATAATATATGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	290	0.0035	28	c.-53 others(47): Show c.-53-10236_-53-10209dupGTCATATATTATATAAATATATAATA TA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102047637	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0274 a0001c0010t0010g0274	1	280	0.0036	28	c.130 others(47): Show c.13007-179_13007-178insATATATATATATATATATATATATAT AT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047639	G G	GTACATAT others(21): Show GTACATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0266 a0001c0006t0006g0266	1	280	0.0036	28	c.130 others(47): Show c.13007-177_13007-176insACATATATATATATATATATATATAT AT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0207 a0001c0001t0013g0207	1	280	0.0036	28	c.130 others(47): Show c.13007-175_13007-174insGTATATATATATATATATATATATAT AT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18957.hp2 NA18977.hp2 HG00609.hp1 NA18957.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0048 a0001c0001t0002 a0001c0001t0026 a0001c0001t0048	a0001c0001t0002g0199 a0001c0001t0026g0209 a0001c0001t0048g0179 a0001c0001t0002g0199 a0001c0001t0026g0209 a0001c0001t0048g0179	3	280	0.0107	28	c.130 others(47): Show c.13007-175_13007-174insGTGTGTATATATATATATATATATAT AT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02622.hp2 HG02630.hp2 others(6): Show HG02273.hp1 HG02622.hp2 HG02630.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0017 a0001c0001 a0001c0016 a0001c0017	a0001c0001t0002 a0001c0001t0003 a0001c0016t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0016t0003 a0001c0017t0003	a0001c0001t0002g0170 a0001c0001t0003g0214 a0001c0001t0003g0215 others(6): Show a0001c0001t0002g0170 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0016t0003g0224 a0001c0016t0003g0226 a0001c0017t0003g0231	9	280	0.0321	28	c.130 others(47): Show c.13007-175_13007-174insGTGTGTGTATATATATATATATATAT AT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02145.hp1 HG02074.hp2 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0084 a0001c0004t0001g0069 a0001c0003t0001g0084 a0001c0004t0001g0069	2	230	0.0087	28	c.315 others(45): Show c.315-4078_315-4077insATATATATATATATATATATATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532485	G G	GTATATAT others(21): Show GTATATATATATGTATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp1 HG02572.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0007 a0001c0004t0002 a0001c0004t0007	a0001c0004t0002g0035 a0001c0004t0007g0286 a0001c0004t0002g0035 a0001c0004t0007g0286	2	336	0.0060	28	c.108 others(45): Show c.1080+500_1080+501insTATATATATATACATACATATATATATA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103288684	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0020 a0002c0003t0001g0020	1	262	0.0038	28	c.110 others(49): Show c.11095+1105_11095+1106insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	75/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158937622	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02148.hp2 HG03704.hp1 others(1): Show HG01981.hp1 HG02148.hp2 HG03704.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0018 a0001c0001t0001 a0001c0023t0018	a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 others(1): Show a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0023t0018g0112	4	274	0.0146	28	c.277 others(47): Show c.2778+3086_2778+3087insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0286 a0001c0003t0001g0286	1	368	0.0027	28	c.186 others(45): Show c.186+1205_186+1206insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNLT1_chr6_158631474_158649743	158636051	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	28	c.77 others(37): Show c.775_*776insTATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		422		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02135.hp1 HG02132.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	396	0.0051	28	c.75 others(37): Show c.757_*758insAATATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	28	c.75 others(37): Show c.757_*758insAAAAAATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	28	c.75 others(37): Show c.757_*758insAAAAAAAAAATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(21): Show ATATATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	396	0.0025	28	c.75 others(37): Show c.757_*758insAAAAAAAAAAAAAAAAAATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196317389	T T	TGTGTGTG others(21): Show TGTGTGTGTGTTGTGTGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02723.hp1 NA19076.hp1 HG00408.hp1 HG02723.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0179 a0001c0001t0001g0231 a0001c0001t0001g0058 a0001c0001t0001g0179 a0001c0001t0001g0231	3	330	0.0091	28	c.113 others(43): Show c.113+650_113+651insCCACACACACACCACACAACACACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37417529	C C	CTTTTTCT others(21): Show CTTTTTCTTTTTCTTTTTCTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0239 a0001c0001t0126g0239	1	350	0.0029	28	c.-76 others(45): Show c.-76-2765_-76-2764insCTTTTTCTTTTTCTTTTTCTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(21): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02056.hp1 HG03098.hp1 others(7): Show HG00544.hp1 HG02056.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp1 HG03704.hp1 NA18942.hp1 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0014 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0008t0001 a0001c0014t0001 a0002c0006t0001	a0001c0001t0001g0079 a0001c0001t0001g0243 a0001c0001t0001g0335 others(7): Show a0001c0001t0001g0079 a0001c0001t0001g0243 a0001c0001t0001g0335 a0001c0002t0001g0239 a0001c0005t0001g0153 a0001c0008t0001g0120 a0001c0008t0001g0345 a0001c0008t0001g0357 a0001c0014t0001g0112 a0002c0006t0001g0078	10	414	0.0242	28	c.132 others(45): Show c.132+7250_132+7251insTTGTGTGTGTGTGTGTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYSF_chr2_71448561_71691763	71618604	G G	GGTGTGTG others(21): Show GGTGTGTGTGTTTGTGTGGGGTGAGTTGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	192	0.0052	28	c.441 others(47): Show c.4410+5197_4410+5198insTGTGTGTTTGTGTGGGGTGAGTTGTG TG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71638247	A A	ATAATCCA others(21): Show ATAATCCATGTGAATACAGGTTATTGAGG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18962.hp1 NA19085.hp2 NA18947.hp2 NA18962.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0001 a0001c0020t0001 a0001c0002t0001 a0001c0020t0001	a0001c0002t0001g0160 a0001c0020t0001g0080 a0001c0020t0001g0085 a0001c0002t0001g0160 a0001c0020t0001g0080 a0001c0020t0001g0085	3	192	0.0156	28	c.441 others(47): Show c.4411-5697_4411-5696insATTGAGGTAATCCATGTGAATACAGG TT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71638247	A A	ATAATCCA others(21): Show ATAATCCATGTGAATACAGGTTATTGAGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18962.hp1 NA19085.hp1 NA18947.hp1 NA18962.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0002 a0001c0020t0001 a0001c0002t0002 a0001c0020t0001	a0001c0002t0002g0164 a0001c0020t0001g0131 a0001c0020t0001g0132 a0001c0002t0002g0164 a0001c0020t0001g0131 a0001c0020t0001g0132	3	208	0.0144	28	c.452 others(47): Show c.4528-5697_4528-5696insATTGAGGTAATCCATGTGAATACAGG TT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	41/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZANK1_chr20_18378367_18472030	18456587	C C	CCTCCTAG others(21): Show CCTCCTAGGCAACCACTGATCTGTTTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0061 a0002c0004t0003g0061	1	374	0.0027	28	c.264 others(45): Show c.264-1254_264-1227dupAGGAAACAGATCAGTGGTTGCCTAGGAG	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	3/20			chr20	TogoVar
DZIP1_chr13_95573202_95649706	95575590	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0087 a0001c0001t0026g0087	1	382	0.0026	28	c.66 others(39): Show c.6643_*6644insACACACACACACACACACACACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding		2611		chr13	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19083.hp1 NA18951.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0080 a0001c0001t0001g0008 a0001c0001t0001g0080	2	318	0.0063	28	c.376 others(45): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTCTCTCTCTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar

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