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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02145.hp2 HG02132.hp2 HG02145.hp2	a0004 a0018 a0004 a0018	a0004c0004 a0018c0011 a0004c0004 a0018c0011	a0004c0004t0001 a0018c0011t0001 a0004c0004t0001 a0018c0011t0001	a0004c0004t0001g0105 a0018c0011t0001g0065 a0004c0004t0001g0105 a0018c0011t0001g0065	2	266	0.0075	35	c.133 others(54): Show c.1335+1673_1335+1674insATATATATATATATATATTTTTTTTT TTTTTTTTT		DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73						chr3	TogoVar
DNAH17_chr17_78418697_78582396	78425756	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0148 a0003c0006t0001g0148	1	252	0.0040	35	c.129 others(54): Show c.12916-186_12916-185insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	79/80						chr17	TogoVar
DNAH17_chr17_78418697_78582396	78433950	A A	AAGGAGGG others(28): Show AAGGAGGGAGGGAAGGAGGGAGGGAAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0116 a0116	a0116c0191 a0116c0191	a0116c0191t0001 a0116c0191t0001	a0116c0191t0001g0158 a0116c0191t0001g0158	1	252	0.0040	35	c.122 others(52): Show c.12225+78_12225+79insCCCTCCCTCCTTCCCTCCCTCCTTCCCT CCCTCCT		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/80						chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541142	T T	TGGGGGGG others(28): Show TGGGGGGGGTGAGCGGGGTGGGGGGATGAGCAGGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0009 a0009	a0009c0142 a0009c0142	a0009c0142t0001 a0009c0142t0001	a0009c0142t0001g0035 a0009c0142t0001g0035	1	252	0.0040	35	c.253 others(54): Show c.2533-1263_2533-1262insCACCTGCTCATCCCCCCACCCCGCTC ACCCCCCCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80						chr17	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(28): Show GGGGGGGGTGGGGGGGTGGGGAGGGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0182 a0007c0012t0001g0182	1	234	0.0043	35	c.324 others(52): Show c.3244-354_3244-353insTCTCTCTCTCCCCCTCCCCACCCCCCCA CCCCCCC		DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61						chr16	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0108 a0108	a0108c0042 a0108c0042	a0108c0042t0001 a0108c0042t0001	a0108c0042t0001g0069 a0108c0042t0001g0069	1	252	0.0040	35	c.527 others(52): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTC		DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78						chr5	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATTT others(28): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0018 a0018	a0018c0059 a0018c0059	a0018c0059t0002 a0018c0059t0002	a0018c0059t0002g0234 a0018c0059t0002g0234	1	284	0.0035	35	c.-35 others(50): Show c.-35+546_-35+547insATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92					INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAI2_chr17_74269234_74319884	74296346	G G	GAGAGGAG others(28): Show GAGAGGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0364 a0001c0002t0002g0364	1	398	0.0025	35	c.725 others(52): Show c.725-3372_725-3371insAGAGGAGAGAGAGAGAGGAGAGAGAGAG AGAGAGA		DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	6/13						chr17	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	336	0.0030	35	c.189 others(48): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15						chr12	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01975.hp1 others(2): Show HG01070.hp2 HG01074.hp1 HG01975.hp1 HG02486.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0138 others(2): Show a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0002g0015	5	336	0.0149	35	c.124 others(54): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCT		DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15						chr12	TogoVar
DNAJB6_chr7_157332004_157422439	157410607	G G	GCATGTAG others(28): Show GCATGTAGGCTTGGCCCTGACTGCGTCCTAAAGCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	372	0.0027	35	c.898 others(50): Show c.898+607_898+641dupCATGTAGGCTTGGCCCTGACTGCGTCCTAA AGCCC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC15_chr13_43018586_43119213	43024893	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0332 a0002c0003t0008g0332	1	352	0.0028	35	c.108 others(52): Show c.108+1177_108+1178insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC18_chr5_139405203_139444525	139440562	A A	AACTCAGA others(28): Show AACTCAGAGAACGGCCGGGCGCGGTGGCTTATGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	314	0.0032	35	c.-11 others(46): Show c.-1152_-1118dupAGGCATAAGCCACCGCGCCCGGCCGTTCTCTGAG T		DNAJC18	ENSG00000170464.10	transcript	ENST00000302060.10	protein_coding					1038		chr5	TogoVar
DNAJC1_chr10_21751548_22008730	21910829	A A	AAGGAAAG others(28): Show AAGGAAAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	164	0.0061	35	c.730 others(52): Show c.730-6218_730-6217insCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTTTCCT		DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	6/11						chr10	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19009.hp1 NA19067.hp1 NA18991.hp1 NA19009.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0006g0143 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0006g0143	3	374	0.0080	35	c.83- others(50): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237081	C C	CGAGAGAG others(28): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	338	0.0030	35	c.28 others(46): Show c.2897_*2898insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G		DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding					2801		chr11	TogoVar
DNAL1_chr14_73639986_73708732	73648417	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04204.hp1 HG03927.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0067 a0001c0001t0004 a0001c0001t0067	a0001c0001t0004g0023 a0001c0001t0067g0217 a0001c0001t0004g0023 a0001c0001t0067g0217	2	340	0.0059	35	c.3+3 others(48): Show c.3+3375_3+3376insATATATATATATATATATATATATATATATAT ATA		DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	1/7						chr14	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(28): Show ATATATATATATATAGAATAATATACTATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0049 a0001c0002t0018g0049	1	279	0.0036	35	c.59 others(46): Show c.5994_*5995insAAAATATATAGTATATTATTCTATATATATATAT A		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding					4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	279	0.0036	35	c.59 others(46): Show c.5994_*5995insAAAAAAAAATATATATATATATATATATATATAT A		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding					4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	279	0.0036	35	c.59 others(46): Show c.5994_*5995insAAAAAAAAAAAAAAATATATATATATATATATAT A		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding					4523		chrX	TogoVar
DNM2_chr19_10713079_10836903	10823862	C C	CCCCACAC others(28): Show CCCCACACACACACACAAAACCCATAAAGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0267 a0003c0008t0001g0267	1	278	0.0036	35	c.185 others(44): Show c.1856_1857insCCCACACACACACACAAAACCCATAAAGGGGGGGG	p.Phe others(5): Show p.Phe620fs	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	17/21	2021/3633	1857/2613	619/870			chr19	TogoVar
DNM3_chr1_171836498_172417717	172008836	T T	TATATTAA others(28): Show TATATTAATATATTATATTATATTACTATATAAATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	136	0.0074	35	c.589 others(54): Show c.589+19708_589+19742dupTATTACTATATAAATAATATTAATAT ATTATATTA		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01255.hp2 HG01168.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0116 a0001c0001t0002g0117	2	172	0.0116	35	c.244 others(52): Show c.244-4329_244-4328insATATATATATATATATATATATATATTT TTTTTTT		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55						chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	172	0.0058	35	c.244 others(52): Show c.244-4329_244-4328insATATATATATATATATATATATATATAT TTTTTTT		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55						chr2	TogoVar
DOCK1_chr10_126900428_127457516	127093239	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp1 HG02922.hp2 HG00741.hp1 HG01261.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0038 a0001c0064 a0002c0070 a0001c0038 a0001c0064 a0002c0070	a0001c0038t0001 a0001c0064t0001 a0002c0070t0002 a0001c0038t0001 a0001c0064t0001 a0002c0070t0002	a0001c0038t0001g0076 a0001c0064t0001g0055 a0002c0070t0002g0094 a0001c0038t0001g0076 a0001c0064t0001g0055 a0002c0070t0002g0094	3	136	0.0221	35	c.244 others(56): Show c.2446-12990_2446-12989insTCTTTCTTTCTTTTCTTTTCTTTC TTTCTTTCTTT		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127347832	G G	GCCTTCCC others(28): Show GCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03710.hp1 HG02572.hp1 HG03710.hp1	a0001 a0001	a0001c0007 a0001c0015 a0001c0007 a0001c0015	a0001c0007t0001 a0001c0015t0001 a0001c0007t0001 a0001c0015t0001	a0001c0007t0001g0085 a0001c0015t0001g0127 a0001c0007t0001g0085 a0001c0015t0001g0127	2	136	0.0147	35	c.322 others(54): Show c.3224+4104_3224+4138dupTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCC		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK2_chr5_169632275_170088382	169792402	T T	TATATATT others(28): Show TATATATTTTATATATGTATACATGTATATGTGTAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0042 a0001c0004 a0001c0042	a0001c0004t0001 a0001c0042t0002 a0001c0004t0001 a0001c0042t0002	a0001c0004t0001g0145 a0001c0042t0002g0117 a0001c0004t0001g0145 a0001c0042t0002g0117	2	184	0.0109	35	c.255 others(56): Show c.2555-10638_2555-10604dupATACATGTATATGTGTACATATAT TTTATATATGT		DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	25/51					INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK4_chr7_111721110_112211399	112159815	A A	AATACATA others(28): Show AATACATAATATTATGTATATATATACATAATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp1 NA19030.hp2 HG02258.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0072 a0001c0002t0002g0070 a0001c0004t0001g0012 a0001c0001t0001g0072 a0001c0002t0002g0070 a0001c0004t0001g0012	3	106	0.0283	35	c.37+ others(52): Show c.37+46252_37+46286dupATATATTATGTATATATATACATAATAT TATGTAT		DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52						chr7	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(28): Show CCTCCACCATCACCACCACCACCACCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0004 a0004c0039t0004	a0004c0039t0004g0056 a0004c0039t0004g0056	1	256	0.0039	35	c.323 others(54): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCACCACCTC CACCATCAC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTTCACC others(28): Show CCTTCACCATCACCACCACCACCACCTCCACTATCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02895.hp1 others(1): Show HG01884.hp1 HG02109.hp2 HG02895.hp1 HG02897.hp2	a0002 a0007 a0002 a0007	a0002c0020 a0002c0110 a0007c0109 a0002c0020 a0002c0110 a0007c0109	a0002c0020t0003 a0002c0110t0002 a0007c0109t0002 a0002c0020t0003 a0002c0110t0002 a0007c0109t0002	a0002c0020t0003g0038 a0002c0020t0003g0039 a0002c0110t0002g0040 others(1): Show a0002c0020t0003g0038 a0002c0020t0003g0039 a0002c0110t0002g0040 a0007c0109t0002g0094	4	256	0.0156	35	c.323 others(54): Show c.3234+1214_3234+1215insTTCACCATCACCACCACCACCACCTC CACTATCAC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK3_chr5_177496904_177514826	177497008	G G	GGGGGAGG others(28): Show GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA19088.hp1 HG00673.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	436	0.0046	35	c.69 others(46): Show c.6974_*6975insTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC C		DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding					4895		chr5	TogoVar
DOK6_chr18_69395888_69854087	69432869	G G	GAATTAAG others(28): Show GAATTAAGCTAAGGAGTTGCCCCCTAGGATTTCATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0141 a0001c0002t0006g0141	1	170	0.0059	35	c.66+ others(52): Show c.66+31561_66+31595dupATTAAGCTAAGGAGTTGCCCCCTAGGAT TTCATTA		DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
DONSON_chr21_33572551_33593684	33583200	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA20905.hp2 NA18985.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0261 a0001c0001t0006g0302 a0001c0001t0001g0261 a0001c0001t0006g0302	2	426	0.0047	35	c.964 others(50): Show c.964+287_964+288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9						chr21	TogoVar
DPEP3_chr16_67970663_67985499	67980836	T T	TATTTCAT others(28): Show TATTTCATTTCATTTCATTTCATTTCATTTCATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	332	0.0030	35	c.-45 others(44): Show c.-457_-456insGAAATGAAATGAAATGAAATGAAATGAAATGAAAT		DPEP3	ENSG00000141096.6	transcript	ENST00000268793.6	protein_coding					338		chr16	TogoVar
DPF3_chr14_72604034_72899101	72756928	A A	AAGAAAGA others(28): Show AAGAAAGAAAGAAAGAAAGAAAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0045	1	234	0.0043	35	c.194 others(52): Show c.194-3558_194-3557insCTTCTCTTCTCTTCTTTCTTTCTTTCTT TCTTTCT		DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10						chr14	TogoVar
DPF3_chr14_72604034_72899101	72756931	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	234	0.0043	35	c.194 others(52): Show c.194-3561_194-3560insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT		DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10						chr14	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	228	0.0044	35	c.312 others(54): Show c.312+41706_312+41707insATATATATATATATATATTTTTTTTT TTTTTTTTT		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPM1_chr20_50929870_50963532	50941358	T T	TATATTCA others(28): Show TATATTCATATACATATATTCATATTATATATATTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01358.hp2 others(5): Show HG01106.hp1 HG01243.hp1 HG01358.hp2 HG02109.hp2 HG02809.hp1 HG02965.hp2 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0062 a0001c0001t0001g0063 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0002t0001g0053	8	380	0.0211	35	c.495 others(50): Show c.495-426_495-425insGAATATATATAATATGAATATATGTATATG AATAT		DPM1	ENSG00000000419.14	transcript	ENST00000371588.10	protein_coding	6/8						chr20	TogoVar
DPP9_chr19_4670227_4728842	4672256	T T	TATATTCA others(28): Show TATATTCATATATTCATATTACTTATATATATATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	314	0.0032	35	c.43 others(46): Show c.4307_*4308insGAATATATATATAAGTAATATGAATATATGAATA T		DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding					2970		chr19	TogoVar
DPT_chr1_168690468_168734206	168725215	A A	ATTCCTTT others(28): Show ATTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp2 others(46): Show HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02080.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18963.hp2 NA18971.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19011.hp2 NA19043.hp1 NA19062.hp1 NA19076.hp2 NA19079.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0013 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0003t0005 a0001c0003t0014 a0001c0005t0001 a0001c0006t0003 a0001c0013t0014 a0002c0004t0002	a0001c0001t0001g0210 a0001c0001t0001g0250 a0001c0001t0001g0252 others(34): Show a0001c0001t0001g0210 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0002g0011 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0251 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0003g0140 a0001c0001t0004g0041 a0001c0001t0004g0171 a0001c0001t0004g0284 a0001c0001t0007g0315 a0001c0001t0007g0316 a0001c0002t0002g0091 a0001c0002t0004g0090 a0001c0003t0005g0044 a0001c0003t0005g0163 a0001c0003t0005g0164 a0001c0003t0005g0166 a0001c0003t0014g0165 a0001c0005t0001g0009 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0006t0003g0180 a0001c0013t0014g0078 a0002c0004t0002g0031 a0002c0004t0002g0063 a0002c0004t0002g0064 a0002c0004t0002g0065 a0002c0004t0002g0066 a0002c0004t0002g0067	49	438	0.1119	35	c.305 others(52): Show c.305+3620_305+3654dupAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAA		DPT	ENSG00000143196.5	transcript	ENST00000367817.4	protein_coding	1/3						chr1	TogoVar
DPT_chr1_168690468_168734206	168725253	C C	CCTTTCCT others(28): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18522.hp1 HG02630.hp2 NA18522.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0008 a0006c0015t0001 a0001c0001t0008 a0006c0015t0001	a0001c0001t0008g0160 a0006c0015t0001g0308 a0001c0001t0008g0160 a0006c0015t0001g0308	2	438	0.0046	35	c.305 others(52): Show c.305+3616_305+3617insTAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAG		DPT	ENSG00000143196.5	transcript	ENST00000367817.4	protein_coding	1/3						chr1	TogoVar
DPYD_chr1_97072743_97926034	97169523	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0039 a0004c0004t0003g0039	1	52	0.0192	35	c.262 others(56): Show c.2622+23511_2622+23545dupTAAAATAAAATAAAATAAAATAAA ATAAAATAAAA		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22						chr1	TogoVar
DPYD_chr1_97072743_97926034	97887469	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0052 a0003c0003t0001g0052	1	52	0.0192	35	c.40- others(50): Show c.40-4096_40-4095insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	1/22						chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(28): Show ATATATATATAGTATATATATAGTATATATATATAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0010 a0001c0019t0010	a0001c0019t0010g0092 a0001c0019t0010g0092	1	316	0.0032	35	c.355 others(54): Show c.355-25607_355-25606insGTATATATATATAGTATATATATAGT ATATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
DRAM1_chr12_101872580_101928612	101920297	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	396	0.0025	35	c.672 others(50): Show c.672+115_672+116insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
DRD4_chr11_632269_645706	645340	A A	AGAGTTTC others(28): Show AGAGTTTCGCTCTTGTTTCCCAGGCTGGAGTGTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	421	0.0024	35	c.47 others(46): Show c.4737_*4738insGAGTTTCGCTCTTGTTTCCCAGGCTGGAGTGTAA C		DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding					4635		chr11	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0080 a0001c0003t0003g0080	1	322	0.0031	35	c.342 others(52): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATTTT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATGCAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02897.hp1 HG01884.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0027 a0001c0007t0001g0028 a0001c0007t0001g0027 a0001c0007t0001g0028	2	322	0.0062	35	c.342 others(52): Show c.3420-521_3420-520insGTGCATATATATATATATATATATATAT ATATATT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATGCACC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0029 a0001c0007t0001g0029	1	322	0.0031	35	c.342 others(52): Show c.3420-522_3420-521insGGTGCATATATATATATATATATATATA TATATAT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG00735.hp1 others(41): Show HG00609.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01952.hp2 HG02015.hp2 HG02074.hp2 HG02165.hp2 HG02258.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02818.hp1 HG02886.hp2 HG03130.hp1 HG03139.hp2 HG03710.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18995.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0014 a0001c0019 a0001c0023 a0002c0005 a0003c0006 a0006c0031	a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 others(11): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0017 a0001c0002t0018 a0001c0003t0003 a0001c0007t0001 a0001c0014t0002 a0001c0019t0001 a0001c0023t0001 a0002c0005t0001 a0003c0006t0003 a0006c0031t0001	a0001c0001t0005g0319 a0001c0002t0001g0065 a0001c0002t0001g0082 others(41): Show a0001c0001t0005g0319 a0001c0002t0001g0065 a0001c0002t0001g0082 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0140 a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0184 a0001c0002t0001g0189 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0244 a0001c0002t0001g0300 a0001c0002t0003g0241 a0001c0002t0006g0314 a0001c0002t0017g0085 a0001c0002t0018g0159 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0214 a0001c0007t0001g0285 a0001c0014t0002g0228 a0001c0019t0001g0296 a0001c0023t0001g0197 a0002c0005t0001g0102 a0002c0005t0001g0265 a0002c0005t0001g0266 a0002c0005t0001g0267 a0002c0005t0001g0279 a0003c0006t0003g0229 a0003c0006t0003g0230 a0006c0031t0001g0238	44	322	0.1367	35	c.342 others(52): Show c.3420-522_3420-521insGGCGCATATATATATATATATATATATA TATATAT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar

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