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
DNAJC12_chr10_67791669_67843188	67801836	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA19030.hp1 HG01070.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0079 a0002c0003t0001g0089 a0002c0003t0001g0079 a0002c0003t0001g0089	2	384	0.0052	-16	c.502 others(33): Show c.502+3731_502+3746delAAAAAAAAAAAAAAAA	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	4/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819660	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01517.hp1 others(7): Show HG00741.hp2 HG01167.hp1 HG01517.hp1 HG02027.hp1 HG02572.hp2 HG02895.hp2 HG03041.hp1 HG03139.hp1 NA18994.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0217 a0001c0001t0001g0224 others(7): Show a0001c0001t0001g0096 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0306	10	384	0.0260	-16	c.157 others(33): Show c.157+3638_157+3653delTTCTTTCTTTCTTTCT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819683	AAAGAAAG others(9): Show AAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18962.hp1 NA18944.hp2 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0325 a0001c0002t0002g0331 a0001c0002t0002g0325 a0001c0002t0002g0331	2	384	0.0052	-16	c.157 others(33): Show c.157+3615_157+3630delCCTTTCTTTCTTTCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819687	AAAGAAAG others(9): Show AAAGAAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp2 NA18991.hp1 others(1): Show HG02055.hp1 HG03453.hp2 NA18991.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0271 a0001c0001t0001g0284 a0001c0002t0002g0312 others(1): Show a0001c0001t0001g0271 a0001c0001t0001g0284 a0001c0002t0002g0312 a0001c0002t0002g0377	4	384	0.0104	-16	c.157 others(33): Show c.157+3611_157+3626delCCTTCCTTTCTTTCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819691	AAAGAAAG others(9): Show AAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	384	0.0026	-16	c.157 others(33): Show c.157+3607_157+3622delCCTTCCTTCCTTTCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819695	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20752.hp2 HG02615.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0175 a0001c0001t0006g0129 a0001c0001t0001g0175 a0001c0001t0006g0129	2	384	0.0052	-16	c.157 others(33): Show c.157+3603_157+3618delCCTTCCTTCCTTCCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819703	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02280.hp2 HG02738.hp1 others(1): Show HG00735.hp1 HG02280.hp2 HG02738.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0087 a0001c0001t0001g0163 a0001c0001t0001g0213 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0163 a0001c0001t0001g0213 a0001c0001t0008g0209	4	384	0.0104	-16	c.157 others(33): Show c.157+3595_157+3610delGCTTCCTTCCTTCCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819767	GAAGGAAG others(9): Show GAAGGAAGGAAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	384	0.0026	-16	c.157 others(33): Show c.157+3531_157+3546delTTCCCCTTCCTTCCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819779	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0124 a0005c0005t0010g0124	1	384	0.0026	-16	c.157 others(33): Show c.157+3519_157+3534delTTCCTTCCTTCCTTCC	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67830610	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0122 a0001c0001t0005g0122	1	384	0.0026	-16	c.79- others(31): Show c.79-7234_79-7219delATTTATTTATTTATTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	1/4			chr10	TogoVar
DNAJC16_chr1_15521848_15576733	15544151	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0093 a0001c0001t0035g0093	1	356	0.0028	-16	c.575 others(31): Show c.575-228_575-213delCACACACACACACACA	DNAJC16	ENSG00000116138.13	transcript	ENST00000375847.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC17_chr15_40760161_40812473	40789903	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	358	0.0028	-16	c.79- others(31): Show c.79-9922_79-9907delTTTTTTTTTTTTTTTT	DNAJC17	ENSG00000104129.10	transcript	ENST00000220496.9	protein_coding	1/10			chr15	TogoVar
DNAJC1_chr10_21751548_22008730	21786427	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03579.hp1 NA19030.hp2 HG02886.hp1 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0098 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0098	3	164	0.0183	-16	c.109 others(37): Show c.1098+19537_1098+19552delATATATATATATATAT	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	9/11			chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21786449	TATATATA others(9): Show TATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	164	0.0061	-16	c.109 others(37): Show c.1098+19515_1098+19530delCTATATATATATATAT	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	9/11			chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21786451	TATATATA others(9): Show TATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	164	0.0061	-16	c.109 others(37): Show c.1098+19513_1098+19528delCTCTATATATATATAT	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	9/11			chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21813175	CCTCTCTC others(9): Show CCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp1 HG02572.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0051 a0001c0001t0001g0054	2	164	0.0122	-16	c.979 others(33): Show c.979-7092_979-7077delAGAGAGAGAGAGAGAG	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11			chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21813206	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	164	0.0061	-16	c.979 others(33): Show c.979-7123_979-7108delTAGAGAGAGAGAGAGA	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11			chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21813208	CTCTCTCT others(9): Show CTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01928.hp2 HG01192.hp2 HG01928.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0094 a0004c0004t0001g0095 a0001c0001t0001g0094 a0004c0004t0001g0095	2	164	0.0122	-16	c.979 others(33): Show c.979-7125_979-7110delTATAGAGAGAGAGAGA	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11			chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21852092	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	164	0.0061	-16	c.978 others(35): Show c.978+30174_978+30189delGTGTGTGTGTGTGTGT	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11			chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21860694	AAAACAAA others(9): Show AAAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	164	0.0061	-16	c.978 others(35): Show c.978+21572_978+21587delGTTTGTTTGTTTGTTT	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	8/11			chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21883251	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02647.hp2 HG02895.hp1 others(7): Show HG02083.hp2 HG02647.hp2 HG02895.hp1 HG02922.hp1 HG03486.hp1 HG03540.hp2 HG03688.hp2 HG03831.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0112	10	164	0.0610	-16	c.821 others(31): Show c.821-828_821-813delGTGTGTGTGTGTGTGT	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	7/11			chr10	TogoVar
DNAJC1_chr10_21751548_22008730	21911040	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02647.hp2 HG02886.hp1 others(2): Show HG01106.hp2 HG02647.hp2 HG02886.hp1 HG02970.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0003g0007	5	164	0.0305	-16	c.730 others(33): Show c.730-6444_730-6429delCCTTCCTTCCTTCCTT	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	6/11			chr10	TogoVar
DNAJC22_chr12_49341888_49358690	49343737	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	-16	c.-43 others(27): Show c.-4383_-4368delTTTTTTTTTTTTTTTT	DNAJC22	ENSG00000178401.16	transcript	ENST00000549441.7	protein_coding		3150		chr12	TogoVar
DNAJC25_chr9_111626334_111659345	111640900	CCGCCCGG others(9): Show CCGCCCGGCCAGCCGTG	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	412	0.0024	-16	c.337 others(33): Show c.337-6205_337-6190delGCCCGGCCAGCCGTGC	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC30_chr7_73675918_73688453	73684923	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	380	0.0026	-16	c.-15 others(27): Show c.-1516_-1501delTTTTTTTTTTTTTTTT	DNAJC30	ENSG00000176410.8	transcript	ENST00000395176.3	protein_coding		1471		chr7	TogoVar
DNAJC3_chr13_95672139_95799988	95755756	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0105 a0001c0009t0005g0105	1	374	0.0027	-16	c.394 others(33): Show c.394-1874_394-1859delAAAAAAAAAAAAAAAA	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC3_chr13_95672139_95799988	95764673	TATATATA others(9): Show TATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0362 a0001c0001t0012g0362	1	374	0.0027	-16	c.107 others(33): Show c.1075+722_1075+737delTATATATATACACACA	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC3_chr13_95672139_95799988	95768749	TGGATCAC others(9): Show TGGATCACCTGAGGTCA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02109.hp2 HG01358.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0343 a0001c0001t0001g0331 a0001c0001t0001g0343	2	374	0.0054	-16	c.107 others(35): Show c.1075+4800_1075+4815delTCACCTGAGGTCAGGA	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC3_chr13_95672139_95799988	95787896	GCTGCTGC others(9): Show GCTGCTGCCAGAGAATT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02818.hp1 others(4): Show HG01884.hp1 HG02622.hp1 HG02818.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0018 a0001c0001t0022 a0001c0001t0041 others(2): Show a0001c0001t0018 a0001c0001t0022 a0001c0001t0041 a0001c0001t0044 a0003c0005t0018	a0001c0001t0018g0366 a0001c0001t0018g0368 a0001c0001t0022g0371 others(4): Show a0001c0001t0018g0366 a0001c0001t0018g0368 a0001c0001t0022g0371 a0001c0001t0022g0372 a0001c0001t0041g0370 a0001c0001t0044g0367 a0003c0005t0018g0369	7	374	0.0187	-16	c.135 others(33): Show c.1357+742_1357+757delCTGCTGCCAGAGAATT	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	11/11			chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237085	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp1 others(86): Show HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02135.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp2 NA18612.hp2 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18950.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18966.hp1 NA18972.hp1 NA18974.hp1 NA18986.hp2 NA18990.hp2 NA18998.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19059.hp1 NA19065.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0002g0004 a0001c0001t0003g0025 a0001c0001t0005g0001	89	338	0.2633	-16	c.29 others(27): Show c.2902_*2917delAGAGAGAGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2805		chr11	TogoVar
DNAJC5B_chr8_66016553_66106245	66020594	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG04115.hp1 HG01074.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0077 a0001c0001t0004g0005 a0001c0001t0004g0077	2	254	0.0079	-16	c.-12 others(27): Show c.-1252_-1237delTGTGTGTGTGTGTGTG	DNAJC5B	ENSG00000147570.10	transcript	ENST00000276570.10	protein_coding		958		chr8	TogoVar
DNAJC6_chr1_65304543_65420871	65307004	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0169 a0002c0004t0006g0170 a0002c0004t0006g0169 a0002c0004t0006g0170	2	326	0.0061	-16	c.-27 others(27): Show c.-2741_-2726delTCTCTCTCTCTCTCTA	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding		2538		chr1	TogoVar
DNAJC6_chr1_65304543_65420871	65372146	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp2 HG03195.hp2 others(1): Show HG01884.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0007 a0003c0007t0022 others(1): Show a0003c0007t0001 a0003c0007t0007 a0003c0007t0022 a0003c0007t0023	a0003c0007t0001g0172 a0003c0007t0007g0223 a0003c0007t0022g0038 others(1): Show a0003c0007t0001g0172 a0003c0007t0007g0223 a0003c0007t0022g0038 a0003c0007t0023g0037	4	326	0.0123	-16	c.543 others(33): Show c.543+5977_543+5992delGTGTGTGTGTGTGTGT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC8_chr1_28195278_28238029	28212164	AATAAATA others(9): Show AATAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	250	0.0040	-16	c.238 others(33): Show c.238-1543_238-1528delATATATATATATTTAT	DNAJC8	ENSG00000126698.11	transcript	ENST00000263697.6	protein_coding	3/8			chr1	TogoVar
DNAJC8_chr1_28195278_28238029	28212168	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	250	0.0040	-16	c.238 others(33): Show c.238-1547_238-1532delATATATATATATATAT	DNAJC8	ENSG00000126698.11	transcript	ENST00000263697.6	protein_coding	3/8			chr1	TogoVar
DNAL1_chr14_73639986_73708732	73694237	TATAAATA others(9): Show TATAAATAAATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02257.hp1 HG02258.hp1 others(3): Show HG00099.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0060 others(1): Show a0001c0001t0002 a0001c0001t0032 a0001c0001t0060 a0001c0001t0061	a0001c0001t0002g0157 a0001c0001t0002g0188 a0001c0001t0032g0088 others(3): Show a0001c0001t0002g0157 a0001c0001t0002g0188 a0001c0001t0032g0088 a0001c0001t0032g0089 a0001c0001t0060g0009 a0001c0001t0061g0008	6	340	0.0177	-16	c.533 others(33): Show c.533-1627_533-1612delTAAATAAATAAATAAA	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNAL4_chr22_38773508_38799143	38791534	ATATTTTG others(9): Show ATATTTTGTATTTTTAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	370	0.0027	-16	c.-14 others(35): Show c.-140+2518_-140+2533delCTAAAAATACAAAATA	DNAL4	ENSG00000100246.13	transcript	ENST00000216068.9	protein_coding	1/3			chr22	TogoVar
DNAL4_chr22_38773508_38799143	38798498	AAGGGTGA others(9): Show AAGGGTGACATTCACCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0148 a0001c0001t0016g0148	1	370	0.0027	-16	c.-45 others(27): Show c.-4586_-4571delAGGTGAATGTCACCCT	DNAL4	ENSG00000100246.13	transcript	ENST00000216068.9	protein_coding		4356		chr22	TogoVar
DNASE1L1_chrX_154396236_154414254	154407218	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	279	0.0036	-16	c.-87 others(33): Show c.-87-1579_-87-1564delAAAAAAAAAAAAAAAA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding	1/7			chrX	TogoVar
DNASE1_chr16_3649691_3663095	3659749	TTAGATAG others(9): Show TTAGATAGATAGATAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02074.hp1 HG00423.hp2 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0004 a0002c0002t0001g0009	2	440	0.0046	-16	c.17 others(27): Show c.1797_*1812delTAGATAGATAGATAGA	DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding		1655		chr16	TogoVar
DNASE2B_chr1_84393484_84420018	84396603	ATCTCTCT others(9): Show ATCTCTCTCTCTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01255.hp1 others(4): Show HG00140.hp2 HG01099.hp1 HG01255.hp1 HG02027.hp2 HG02622.hp2 HG02647.hp1 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0092 a0001c0003t0001g0115 a0001c0004t0001g0004 others(2): Show a0001c0001t0001g0092 a0001c0003t0001g0115 a0001c0004t0001g0004 a0002c0002t0001g0003 a0002c0002t0001g0072	7	426	0.0164	-16	c.-19 others(27): Show c.-1961_-1946delTCTCTCTCTCTCTCTC	DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding		1880		chr1	TogoVar
DNASE2B_chr1_84393484_84420018	84411425	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00597.hp2 others(87): Show HG00140.hp2 HG00408.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp2 NA18988.hp1 NA18991.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19081.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0003 a0002c0002 a0003c0007 others(1): Show a0001c0003 a0002c0002 a0003c0007 a0006c0011	a0001c0003t0001 a0002c0002t0001 a0003c0007t0001 others(1): Show a0001c0003t0001 a0002c0002t0001 a0003c0007t0001 a0006c0011t0001	a0001c0003t0001g0009 a0001c0003t0001g0014 a0001c0003t0001g0015 others(29): Show a0001c0003t0001g0009 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0039 a0001c0003t0001g0046 a0001c0003t0001g0134 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0151 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0050 a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0082 a0003c0007t0001g0003 a0003c0007t0001g0032 a0003c0007t0001g0052 a0003c0007t0001g0065 a0003c0007t0001g0073 a0006c0011t0001g0009	90	426	0.2113	-16	c.547 others(31): Show c.547+469_547+484delGTGTGTGTGTGTGTGT	DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNASE2_chr19_12870209_12886449	12881782	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02258.hp1 NA19012.hp1 others(1): Show HG00735.hp1 HG02258.hp1 NA19012.hp1 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0034 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0034 a0001c0002t0002g0057	4	372	0.0108	-16	c.-42 others(25): Show c.-423_-408delAAAAAAAAAAAAAAAA	DNASE2	ENSG00000105612.10	transcript	ENST00000222219.8	protein_coding		334		chr19	TogoVar
DNER_chr2_229352629_229719555	229387493	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG02056.hp1 others(4): Show HG00140.hp1 HG00597.hp1 HG02056.hp1 HG03130.hp1 NA19007.hp1 NA19087.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0079 a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0002t0001g0161 a0001c0002t0001g0165	7	176	0.0398	-16	c.185 others(33): Show c.1855+756_1855+771delCTCTTTCTTTCTTTCT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	11/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229387509	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20752.hp1 HG03516.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0096 a0001c0001t0001g0122	2	176	0.0114	-16	c.185 others(33): Show c.1855+740_1855+755delTTCTTTCTTTCTTTCT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	11/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229388592	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	176	0.0057	-16	c.172 others(33): Show c.1724-212_1724-197delATATATATATATATAT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	10/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229554907	GAAGAGAA others(9): Show GAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02735.hp2 HG03017.hp1 others(1): Show HG01261.hp1 HG02735.hp2 HG03017.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0095	4	176	0.0227	-16	c.848 others(33): Show c.848-7831_848-7816delTCTCTTCTCTTCTCTT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	4/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229586508	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp1 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0039 a0001c0002t0001g0152 a0001c0001t0001g0039 a0001c0002t0001g0152	2	176	0.0114	-16	c.681 others(31): Show c.681-500_681-485delTTTTTTTTTTTTTTTT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	3/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229586535	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02818.hp2 HG03471.hp1 HG00642.hp2 HG02818.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0139 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0001t0001g0139 a0001c0002t0001g0166 a0001c0002t0001g0168	3	176	0.0171	-16	c.681 others(31): Show c.681-527_681-512delGTTTTTTTTTTTTTTT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	3/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229594952	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01109.hp2 others(12): Show HG00639.hp2 HG00741.hp2 HG01109.hp2 HG02258.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp2 NA18906.hp1 NA18994.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0007 a0001c0015 others(3): Show a0001c0001 a0001c0007 a0001c0015 a0002c0003 a0002c0017 a0010c0012	a0001c0001t0001 a0001c0007t0001 a0001c0015t0001 others(4): Show a0001c0001t0001 a0001c0007t0001 a0001c0015t0001 a0002c0003t0001 a0002c0003t0002 a0002c0017t0002 a0010c0012t0001	a0001c0001t0001g0056 a0001c0001t0001g0090 a0001c0001t0001g0105 others(12): Show a0001c0001t0001g0056 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0007t0001g0134 a0001c0015t0001g0169 a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0014 a0002c0003t0001g0022 a0002c0003t0001g0104 a0002c0003t0002g0009 a0002c0017t0002g0153 a0010c0012t0001g0015	15	176	0.0852	-16	c.277 others(33): Show c.277-3080_277-3065delTTTTTTTTTTTTTTTT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar

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