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
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	279	0.0036	33	c.59 others(44): Show c.5994_*5995insAAAAAAAAAAAAATATATATATATATATATATA		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding					4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	279	0.0036	33	c.59 others(44): Show c.5994_*5995insAAAAAAAAAAAAAAAAATATATATATATATATA		DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding					4523		chrX	TogoVar
DNLZ_chr9_136354483_136368744	136363675	T T	TCAGCAAC others(26): Show TCAGCAACCTCGGCGCGCCGCGCAGCGCAGTCCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp2 HG01123.hp1 HG02273.hp2 others(4): Show HG01081.hp2 HG01123.hp1 HG02273.hp2 HG02451.hp1 HG03041.hp1 HG03239.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0016 a0004c0004t0001 a0004c0004t0016	a0004c0004t0001g0028 a0004c0004t0016g0022 a0004c0004t0001g0028 a0004c0004t0016g0022	7	418	0.0168	33	c.7_3 others(37): Show c.7_39dupCGGACTGCGCTGCGCGGCGCGCCGAGGTTGCTG	p.Leu others(44): Show p.Leu13_Ser14insArgThrAlaLeuArgGlyAlaProArgLeuLeu	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding	1/3	69/3096	39/537	13/178			chr9	TogoVar
DNLZ_chr9_136354483_136368744	136363705	T T	TCCGCAGC others(26): Show TCCGCAGCAACCTCGGCGCGCCGCGCAGCGCAGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp1 HG03516.hp1 HG02717.hp1 HG03516.hp1	a0006 a0007 a0006 a0007	a0006c0010 a0007c0011 a0006c0010 a0007c0011	a0006c0010t0030 a0007c0011t0001 a0006c0010t0030 a0007c0011t0001	a0006c0010t0030g0082 a0007c0011t0001g0083 a0006c0010t0030g0082 a0007c0011t0001g0083	2	418	0.0048	33	c.9_1 others(37): Show c.9_10insGCTGCGCTGCGCGGCGCGCCGAGGTTGCTGCGG	p.Arg others(42): Show p.Arg3_Thr4insAlaAlaLeuArgGlyAlaProArgLeuLeuArg	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding	1/3	39/3096	9/537	3/178			chr9	TogoVar
DNM1L_chr12_32674301_32750650	32717565	C C	CAAATATA others(26): Show CAAATATATATACCTAGGTAGATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02622.hp1 others(4): Show HG02109.hp2 HG02257.hp2 HG02622.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0008 a0001c0001t0014	a0001c0001t0008g0073 a0001c0001t0008g0204 a0001c0001t0008g0207 others(4): Show a0001c0001t0008g0073 a0001c0001t0008g0204 a0001c0001t0008g0207 a0001c0001t0008g0208 a0001c0001t0008g0209 a0001c0001t0014g0205 a0001c0001t0014g0206	7	230	0.0304	33	c.620 others(50): Show c.620-1072_620-1040dupTATATACCTAGGTAGATATATATATAAA AAATA		DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
DNM1L_chr12_32674301_32750650	32717571	T T	TATATACC others(26): Show TATATACCTAGGTAGATATATATATAAAAAATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02109.hp1 others(4): Show HG00741.hp1 HG01891.hp1 HG02109.hp1 HG02559.hp1 NA18522.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0001t0024 a0001c0006t0004 a0001c0001t0004 a0001c0001t0024 a0001c0006t0004	a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0011 others(4): Show a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0024g0010 a0001c0006t0004g0014	7	230	0.0304	33	c.620 others(48): Show c.620-907_620-875dupCATATACCTAGGTAGATATATATATAAAAA ATA		DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
DNM3_chr1_171836498_172417717	172283780	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	136	0.0074	33	c.177 others(54): Show c.1770-24945_1770-24944insAAAAAAAAAAAAAAAAAAAAAAAA AGAAAGAAA		DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNMBP_chr10_99870577_100014947	99879101	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19066.hp2 HG02630.hp1 NA19066.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0014 a0003c0005 a0004c0014	a0003c0005t0004 a0004c0014t0006 a0003c0005t0004 a0004c0014t0006	a0003c0005t0004g0124 a0004c0014t0006g0118 a0003c0005t0004g0124 a0004c0014t0006g0118	2	274	0.0073	33	c.454 others(50): Show c.4548+709_4548+710insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16						chr10	TogoVar
DOCK10_chr2_224760090_225047468	224921110	A A	ATATATAT others(26): Show ATATATATATATATATATATATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0001 a0011c0028t0001	a0011c0028t0001g0067 a0011c0028t0001g0067	1	172	0.0058	33	c.244 others(50): Show c.244-4327_244-4326insATATATATATTTATATATATATATATAT ATATA		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55						chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0170 a0007c0011t0001g0170	1	172	0.0058	33	c.244 others(50): Show c.244-4329_244-4328insATATATATATATATATATATATATATAT TTTTT		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55						chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	172	0.0058	33	c.244 others(50): Show c.244-4329_244-4328insATATATATATATATATATATATATATAT ATTTT		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55						chr2	TogoVar
DOCK10_chr2_224760090_225047468	225035551	T T	TAATATAT others(26): Show TAATATATATATATATATATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp1 HG01243.hp1 HG03195.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0035 a0001c0001 a0017c0035	a0001c0001t0001 a0017c0035t0002 a0001c0001t0001 a0017c0035t0002	a0001c0001t0001g0102 a0017c0035t0002g0103 a0001c0001t0001g0102 a0017c0035t0002g0103	2	172	0.0116	33	c.123 others(50): Show c.123+6700_123+6701insTATATATATTATATATATATATATATAT ATATT		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55						chr2	TogoVar
DOCK11_chrX_118490815_118691147	118648182	A A	ATATATAA others(26): Show ATATATAATAATATAATATATAATATTATAATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0117	1	211	0.0047	33	c.439 others(50): Show c.4399-741_4399-709dupATATTATAATATTATATAATAATATAAT ATATA		DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	40/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK11_chrX_118490815_118691147	118648591	T T	TATATATA others(26): Show TATATATAATATATTAATATATAATATATAATAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp1 HG03834.hp2 others(4): Show HG00621.hp1 HG02135.hp1 HG03834.hp2 NA18944.hp1 NA18963.hp2 NA19012.hp1 NA19060.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0008c0017	a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 a0008c0017t0001	a0001c0001t0001g0103 a0001c0002t0001g0003 a0001c0002t0001g0004 others(4): Show a0001c0001t0001g0103 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0211 a0001c0013t0001g0009 a0008c0017t0001g0135	7	211	0.0332	33	c.439 others(50): Show c.4399-340_4399-308dupTAATATATAATATATAATACATATATAA TATAT		DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	40/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK1_chr10_126900428_127457516	126963640	C C	CTTCCCTT others(26): Show CTTCCCTTCCCTTCCCTTCCCTCCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG02027.hp2 others(5): Show HG00738.hp1 HG01123.hp2 HG02027.hp2 HG02056.hp2 HG02273.hp1 HG03098.hp2 HG03225.hp2 NA18906.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0005 a0001c0009 others(5): Show a0001c0002 a0001c0005 a0001c0009 a0001c0015 a0001c0030 a0001c0067 a0003c0048 a0004c0032	a0001c0002t0001 a0001c0005t0006 a0001c0009t0002 others(5): Show a0001c0002t0001 a0001c0005t0006 a0001c0009t0002 a0001c0015t0001 a0001c0030t0001 a0001c0067t0006 a0003c0048t0003 a0004c0032t0004	a0001c0002t0001g0081 a0001c0005t0006g0134 a0001c0009t0002g0027 others(5): Show a0001c0002t0001g0081 a0001c0005t0006g0134 a0001c0009t0002g0027 a0001c0015t0001g0068 a0001c0030t0001g0034 a0001c0067t0006g0028 a0003c0048t0003g0063 a0004c0032t0004g0106	8	136	0.0588	33	c.47- others(48): Show c.47-7061_47-7060insTCCCTTCCCTTCCCTTCCCTCCCCTCCTTC CTT		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127093240	T T	TTTCTTTC others(26): Show TTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0054 a0001c0004t0010g0054	1	136	0.0074	33	c.244 others(54): Show c.2446-12990_2446-12989insTCTTTCTTTCTTTTCTTTTCTTTC TTTCTTTCT		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127093243	T T	TTTCTTTC others(26): Show TTTCTTTCTTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0038 a0001c0047t0001g0038	1	136	0.0074	33	c.244 others(54): Show c.2446-12986_2446-12985insCTTTCTTTTCTTTTCTTTCTTTCT TTCTTTCTT		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	50698517	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19079.hp2 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0024 a0001c0001t0005g0006 a0001c0001t0005g0024	2	212	0.0094	33	c.37+ others(50): Show c.37+23242_37+23243insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	1/52					INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51016243	T T	TGATATAT others(26): Show TGATATATATATCATATTTTCTATATAATATATG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	212	0.0047	33	c.316 others(52): Show c.316-48205_316-48204insGATATATATATCATATTTTCTATATA ATATATG		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52						chr3	TogoVar
DOCK4_chr7_111721110_112211399	111762762	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	106	0.0094	33	c.402 others(52): Show c.4020+2355_4020+2356insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	39/52						chr7	TogoVar
DOCK5_chr8_25179689_25420711	25183208	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0015 a0015	a0015c0036 a0015c0036	a0015c0036t0068 a0015c0036t0068	a0015c0036t0068g0153 a0015c0036t0068g0153	1	210	0.0048	33	c.-17 others(44): Show c.-1701_-1700insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding					1480		chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216796	T T	TGTATACA others(26): Show TGTATACAATATGTGTATACAATATGTGTATACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0047 a0004c0047	a0004c0047t0008 a0004c0047t0008	a0004c0047t0008g0021 a0004c0047t0008g0021	1	210	0.0048	33	c.44- others(50): Show c.44-26878_44-26877insGTATACAATATGTGTATACAATATGTGT ATACA		DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51						chr8	TogoVar
DOCK8_chr9_209865_470255	400217	T T	TCACCATC others(26): Show TCACCATCTTCACCGTCACCACCACCTCCACCAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0039 a0039	a0039c0052 a0039c0052	a0039c0052t0001 a0039c0052t0001	a0039c0052t0001g0079 a0039c0052t0001g0079	1	256	0.0039	33	c.323 others(50): Show c.3234+963_3234+964insTCTTCACCGTCACCACCACCTCCACCAC CACCA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400246	T T	TTCACCAT others(26): Show TTCACCATCACCATCACCACCACCTCCACTATCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0047 a0047	a0047c0146 a0047c0146	a0047c0146t0001 a0047c0146t0001	a0047c0146t0001g0013 a0047c0146t0001g0013	1	256	0.0039	33	c.323 others(50): Show c.3234+987_3234+988insTCACCATCACCATCACCACCACCTCCAC TATCA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47						chr9	TogoVar
DOCK8_chr9_209865_470255	400382	T T	TCACCACC others(26): Show TCACCACCACCACCTCCACCATCACCACCACCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0252 a0002c0007t0001g0252	1	256	0.0039	33	c.323 others(52): Show c.3234+1128_3234+1129insCCACCACCTCCACCATCACCACCACC TCCACCA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400509	C C	CCACCTCC others(26): Show CCACCTCCTCCATCACCACCACCATCTTCACCAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0113 a0002c0113	a0002c0113t0001 a0002c0113t0001	a0002c0113t0001g0235 a0002c0113t0001g0235	1	256	0.0039	33	c.323 others(52): Show c.3234+1254_3234+1255insTCCTCCATCACCACCACCATCTTCAC CATCACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400605	C C	CCACCACC others(26): Show CCACCACCTCCACCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp1 NA19060.hp2 others(1): Show HG03831.hp2 HG03834.hp1 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0061 a0002c0005 others(1): Show a0001c0003 a0001c0061 a0002c0005 a0004c0019	a0001c0003t0001 a0001c0061t0001 a0002c0005t0001 others(1): Show a0001c0003t0001 a0001c0061t0001 a0002c0005t0001 a0004c0019t0001	a0001c0003t0001g0107 a0001c0061t0001g0080 a0002c0005t0001g0192 others(1): Show a0001c0003t0001g0107 a0001c0061t0001g0080 a0002c0005t0001g0192 a0004c0019t0001g0091	4	256	0.0156	33	c.323 others(52): Show c.3234+1353_3234+1354insTCCACCACCACCACCACCTCCACCAT CACCACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK6_chr18_69395888_69854087	69512332	C C	CTTCTTCT others(26): Show CTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0129 a0001c0001t0029g0129	1	170	0.0059	33	c.67- others(50): Show c.67-52153_67-52152insCTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69694058	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0052 a0001c0002t0012g0052	1	170	0.0059	33	c.410 others(50): Show c.410-4314_410-4313insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69774133	G G	GATATATA others(26): Show GATATATATATATATATGAGATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0091 a0001c0003t0091	a0001c0003t0091g0020 a0001c0003t0091g0020	1	170	0.0059	33	c.856 others(52): Show c.856+16276_856+16277insGAGATATATATATATATATATATATA TATATAT		DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
DONSON_chr21_33572551_33593684	33583200	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18972.hp2 HG01167.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0126 a0001c0001t0022 a0001c0001t0126	a0001c0001t0022g0259 a0001c0001t0126g0155 a0001c0001t0022g0259 a0001c0001t0126g0155	2	426	0.0047	33	c.964 others(48): Show c.964+287_964+288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9						chr21	TogoVar
DOP1B_chr21_36151824_36299274	36273525	G G	GGGGGGGG others(26): Show GGGGGGGGGGGGGGGTGGGGGGGTGGGGGCGTGT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	292	0.0034	33	c.563 others(52): Show c.5632+3371_5632+3372insGGGGGGGGGGGTGGGGGGGTGGGGGC GTGTGGG		DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	27/36					INFO_REALIGN_3_PRIME	chr21	TogoVar
DPEP1_chr16_89608642_89643433	89619275	G G	GCCCCCCC others(26): Show GCCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0052	1	250	0.0040	33	c.-10 others(52): Show c.-107+5563_-107+5564insCGCTCCCCTCCCTGCAGCCCCCCTGT CCCCCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619814	A A	ACTCCCCT others(26): Show ACTCCCCTCCCTGCAGCCCCCCTGCGTCCCCTCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	250	0.0040	33	c.-10 others(52): Show c.-107+6103_-107+6104insCCTGCAGCCCCCCTGCGTCCCCTCGC TCCCCTC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634525	G G	GTTCCCCT others(26): Show GTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	250	0.0040	33	c.105 others(50): Show c.105-1361_105-1360insTTCCTTCTCCTTTCCCCTTCCTTCTCCT TTCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634976	T T	TCCCTTCC others(26): Show TCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG02896.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0159 a0002c0002t0001g0160	2	250	0.0080	33	c.105 others(48): Show c.105-913_105-912insCTTCCTTCCCTTTCCCCTTCCTTCTCCTTT CCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635104	T T	TCCCCTTC others(26): Show TCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	250	0.0040	33	c.105 others(48): Show c.105-801_105-800insCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635223	T T	TTCCTTCT others(26): Show TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03098.hp1 HG06807.hp2 HG01243.hp1 HG03098.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0090 a0001c0001t0002g0170 a0001c0001t0002g0172	3	250	0.0120	33	c.105 others(48): Show c.105-677_105-676insCTTTCCCCTTCCTTCTCCTTTCCCCTCCTT CTC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPF3_chr14_72604034_72899101	72756906	A A	AAAAAGAA others(26): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02165.hp2 HG01243.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0007 a0001c0001t0016 a0001c0002t0007	a0001c0001t0016g0085 a0001c0002t0007g0049 a0001c0001t0016g0085 a0001c0002t0007g0049	2	234	0.0086	33	c.194 others(50): Show c.194-3536_194-3535insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTT		DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10						chr14	TogoVar
DPF3_chr14_72604034_72899101	72756928	A A	AAGAAAGA others(26): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	234	0.0043	33	c.194 others(50): Show c.194-3558_194-3557insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCT		DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10						chr14	TogoVar
DPF3_chr14_72604034_72899101	72838906	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	234	0.0043	33	c.32+ others(50): Show c.32+55150_32+55151insTATATATATATATATATATATATATATA TATAT		DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10						chr14	TogoVar
DPH1_chr17_2025153_2048898	2034761	C C	CCCTCCCC others(26): Show CCCTCCCCTGCTGCCCCCTCCCCCTCCTCCCCCA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0052 a0002c0003t0001g0052	1	392	0.0026	33	c.278 others(48): Show c.278+920_278+921insCTCCCCTGCTGCCCCCTCCCCCTCCTCCCC CAC		DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	228	0.0044	33	c.312 others(52): Show c.312+41706_312+41707insATATATATATATATATATATATATAT ATATATA		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPH7_chr9_137549444_137583925	137551728	C C	CCCGCCCC others(26): Show CCCGCCCCGCGAGCCCCGCACCGCCGACCCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	340	0.0029	33	c.35 others(44): Show c.3510_*3511insTGCGGGGTCGGCGGTGCGGGGCTCGCGGGGCGG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding					2715		chr9	TogoVar
DPM3_chr1_155134891_155145531	155144892	T T	TACAGGCG others(26): Show TACAGGCGTGAGCCACCGCACCCAGCCGAATGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	33	c.-44 others(44): Show c.-4408_-4407insTTCATTCGGCTGGGTGCGGTGGCTCACGCCTGT		DPM3	ENSG00000179085.8	transcript	ENST00000368400.5	protein_coding					4362		chr1	TogoVar
DPY19L1_chr7_34923881_35042485	35017501	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	328	0.0031	33	c.411 others(48): Show c.411+380_411+381insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	3/21						chr7	TogoVar
DPY19L4_chr8_94714900_94798836	94788095	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0057 a0001c0001t0007g0057	1	290	0.0035	33	c.200 others(48): Show c.2007+44_2007+45insATATATATATATATATATATATATATTTTT TTT		DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(26): Show ATATATATAGTATATATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0014 a0001c0018t0014	a0001c0018t0014g0123 a0001c0018t0014g0123	1	316	0.0032	33	c.355 others(52): Show c.355-25607_355-25606insGTATATATATATAGTATATATATAGT ATATATA		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(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	396	0.0025	33	c.672 others(48): Show c.672+115_672+116insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19064.hp1 NA19074.hp2 others(1): Show NA18949.hp1 NA19064.hp1 NA19074.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0033 a0001c0003t0003g0062 a0001c0003t0003g0183 others(1): Show a0001c0003t0003g0033 a0001c0003t0003g0062 a0001c0003t0003g0183 a0001c0003t0003g0196	4	322	0.0124	33	c.342 others(50): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATTTT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar

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