Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 NA18991.hp2 HG02970.hp1 NA18991.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0006 a0002c0002t0002 a0003c0003t0006	a0002c0002t0002g0246 a0003c0003t0006g0187 a0002c0002t0002g0246 a0003c0003t0006g0187	2	336	0.0060	33	c.51 others(44): Show c.5150_*5151insAAAAAAAAAAAAAATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0329 a0002c0002t0002g0329	1	336	0.0030	33	c.51 others(44): Show c.5150_*5151insAAAAAAAAAAAATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0254 a0002c0002t0002g0254	1	336	0.0030	33	c.51 others(44): Show c.5150_*5151insAAAAAAAAAATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01167.hp1 NA18956.hp2 others(1): Show HG00597.hp1 HG01167.hp1 NA18956.hp2 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0252 a0002c0002t0002g0270 others(1): Show a0002c0002t0002g0055 a0002c0002t0002g0252 a0002c0002t0002g0270 a0002c0002t0002g0327	4	336	0.0119	33	c.51 others(44): Show c.5150_*5151insAAAAAAAATATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18957.hp1 NA19012.hp1 HG02155.hp2 NA18957.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0243 a0002c0002t0002g0279 a0002c0002t0002g0313 a0002c0002t0002g0243 a0002c0002t0002g0279 a0002c0002t0002g0313	3	336	0.0089	33	c.51 others(44): Show c.5150_*5151insAAAAAATATATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13297282	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02738.hp2 HG03492.hp2 HG01243.hp1 HG02738.hp2 HG03492.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0002c0020 a0006c0007 a0001c0004 a0002c0020 a0006c0007	a0001c0004t0003 a0002c0020t0002 a0006c0007t0001 a0001c0004t0003 a0002c0020t0002 a0006c0007t0001	a0001c0004t0003g0162 a0002c0020t0002g0057 a0006c0007t0001g0164 a0001c0004t0003g0162 a0002c0020t0002g0057 a0006c0007t0001g0164	3	212	0.0142	33	c.134 others(52): Show c.1348+7986_1348+7987insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197132576	T T	TATTAAAT others(26): Show TATTAAATAGCTGTGGCATACTGCTGAAATACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp2 HG01167.hp1 others(7): Show HG00741.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01515.hp1 HG01517.hp1 HG03017.hp1 HG03490.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0006 a0003c0005t0002 a0001c0001t0002 a0001c0001t0006 a0003c0005t0002	a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0149 others(7): Show a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0172 a0001c0001t0006g0129 a0001c0001t0006g0137 a0001c0001t0006g0155 a0001c0001t0006g0164 a0003c0005t0002g0157	10	332	0.0301	33	c.102 others(52): Show c.1021-1938_1021-1906dupGTGTATTTCAGCAGTATGCCACAGCT ATTTAAT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	10/24			chr3	TogoVar
DLG4_chr17_7182187_7222627	7184646	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0199 a0001c0001t0119g0199	1	376	0.0027	33	c.60 others(44): Show c.6061_*6062insTATATATATATATATATATATATATATATATAT	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2540		chr17	TogoVar
DLGAP1_chr18_3491032_4460307	4265627	T T	TTCCTTCC others(26): Show TTCCTTCCTTCCCTCCCTCCCTCCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0043 a0001c0001t0022g0043	1	80	0.0125	33	c.-26 others(56): Show c.-266-114341_-266-114340insGGGAGGGAGGGGAGGGAGGGAG GGAAGGAAGGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1014399	A A	ATGCCTCC others(26): Show ATGCCTCCACTGTGTGTGTGACCAGGACAGACGG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	33	c.73+ others(52): Show c.73+106441_73+106442insCTGTGTGTGTGACCAGGACAGACGGT GCCTCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014785	C C	CGCCTCCA others(26): Show CGCCTCCACTGTGTGTGTGACCAGGACAGACGGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	33	c.73+ others(52): Show c.73+106850_73+106851insGTGCCTCCACTGTGTGTGTGACCAGG ACAGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1015279	G G	GTGACCAG others(26): Show GTGACCAGGACAGACGGCGCCTCCACTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	33	c.73+ others(52): Show c.73+107329_73+107361dupGCGCCTCCACTGTGTGTATGACCAGG ACAGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1016033	T T	TGCCTCCA others(26): Show TGCCTCCACTGTGTGTATGACCAGGACAGACGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	33	c.73+ others(52): Show c.73+108082_73+108083insATGACCAGGACAGACGGCGCCTCCAC TGTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1256480	T T	TGCTGTGT others(26): Show TGCTGTGTGTGTGCCCGTCTCATCCTGCCCAGGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG03486.hp1 others(2): Show HG02922.hp1 HG02976.hp1 HG03486.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0002c0001 a0003c0005 others(1): Show a0001c0003 a0002c0001 a0003c0005 a0004c0008	a0001c0003t0013 a0002c0001t0002 a0002c0001t0005 others(2): Show a0001c0003t0013 a0002c0001t0002 a0002c0001t0005 a0003c0005t0002 a0004c0008t0016	a0001c0003t0013g0007 a0002c0001t0002g0032 a0002c0001t0005g0035 others(2): Show a0001c0003t0013g0007 a0002c0001t0002g0032 a0002c0001t0005g0035 a0003c0005t0002g0031 a0004c0008t0016g0029	5	40	0.1250	33	c.74- others(48): Show c.74-2359_74-2358insCCCGTCTCATCCTGCCCAGGCGCTGTGTGT GTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1374176	G G	GGGCTGTG others(26): Show GGGCTGTGGTGGAGGTTAGGGTCGGTTTGCAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02895.hp1 HG03516.hp2 HG00639.hp2 HG02895.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0001 a0001c0010t0025 a0001c0003t0001 a0001c0010t0025	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0010t0025g0012 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0010t0025g0012	3	40	0.0750	33	c.106 others(54): Show c.106+115308_106+115340dupTTAGGGTCGGTTTGCAGAAGGCTG TGGTGGAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1553465	C C	CAGCAGCC others(26): Show CAGCAGCCCCGTTGTGCTCGGCATGTTCACAGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	33	c.123 others(52): Show c.1230+3799_1230+3800insCGGCATGTTCACAGGTAGCAGCCCCG TTGTGCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1553465	C C	CAGCAGCC others(26): Show CAGCAGCCCCGTTGTGCTCGGCGTGTTCACAGGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01071.hp2 others(36): Show HG00639.hp1 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG03710.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0009 others(8): Show a0001c0002 a0001c0003 a0001c0009 a0001c0011 a0001c0012 a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(30): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0001c0003t0017 a0001c0003t0024 a0001c0009t0012 a0001c0011t0015 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0002c0007t0008 a0003c0005t0002 a0003c0005t0004 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0021 others(36): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0022g0034 a0001c0002t0023g0005 a0001c0002t0027g0023 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0003t0024g0003 a0001c0009t0012g0006 a0001c0011t0015g0002 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0002c0007t0008g0040 a0003c0005t0002g0031 a0003c0005t0004g0037 a0004c0008t0016g0029	39	40	0.9750	33	c.123 others(52): Show c.1230+3799_1230+3800insCGGCGTGTTCACAGGTAGCAGCCCCG TTGTGCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1683856	A A	ATATATAT others(26): Show ATATATATATATTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	33	c.270 others(52): Show c.2704+5228_2704+5229insATATATATATTATATATATATATATA TATATGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1695365	G G	GCCCGGCC others(26): Show GCCCGGCCCTACAGAAAGAGGGGGCACAGCCTTA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG02071.hp2 others(3): Show HG01071.hp2 HG01496.hp1 HG02071.hp2 HG02698.hp1 HG03492.hp2 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0001 others(1): Show a0001c0002 a0001c0012 a0002c0001 a0002c0004	a0001c0002t0002 a0001c0012t0004 a0002c0001t0003 others(2): Show a0001c0002t0002 a0001c0012t0004 a0002c0001t0003 a0002c0001t0011 a0002c0004t0003	a0001c0002t0002g0021 a0001c0012t0004g0036 a0002c0001t0003g0017 others(3): Show a0001c0002t0002g0021 a0001c0012t0004g0036 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0011g0001 a0002c0004t0003g0009	6	40	0.1500	33	c.279 others(52): Show c.2797-1751_2797-1719dupTTACCCGGCCCTACAGAAAGAGGGGG CACAGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	31284557	T T	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02071.hp1 NA20905.hp1 HG01243.hp1 HG02071.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0003 a0001c0001 a0001c0002 a0003c0003	a0001c0001t0002 a0001c0002t0001 a0003c0003t0001 a0001c0001t0002 a0001c0002t0001 a0003c0003t0001	a0001c0001t0002g0024 a0001c0002t0001g0104 a0003c0003t0001g0027 a0001c0001t0002g0024 a0001c0002t0001g0104 a0003c0003t0001g0027	3	126	0.0238	33	c.922 others(54): Show c.9225-23574_9225-23542dupGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04199.hp1 NA20752.hp1 HG02698.hp1 HG04199.hp1 NA20752.hp1	a0005 a0012 a0013 a0005 a0012 a0013	a0005c0007 a0012c0048 a0013c0015 a0005c0007 a0012c0048 a0013c0015	a0005c0007t0001 a0012c0048t0001 a0013c0015t0001 a0005c0007t0001 a0012c0048t0001 a0013c0015t0001	a0005c0007t0001g0120 a0012c0048t0001g0057 a0013c0015t0001g0030 a0005c0007t0001g0120 a0012c0048t0001g0057 a0013c0015t0001g0030	3	126	0.0238	33	c.592 others(52): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32815520	T T	TATATATA others(26): Show TATATATATATATATATATATAATATATATACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0018 a0018	a0018c0061 a0018c0061	a0018c0061t0001 a0018c0061t0001	a0018c0061t0001g0003 a0018c0061t0001g0003	1	126	0.0079	33	c.530 others(48): Show c.530+947_530+948insGTGTATATATATTATATATATATATATATA TAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	6/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32879007	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0039 a0001c0001t0026g0039	1	126	0.0079	33	c.94- others(50): Show c.94-29188_94-29187insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33090341	G G	GTATAGAA others(26): Show GTATAGAATATTATTCTATTCTATACTATATTAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0032 a0032	a0032c0036 a0032c0036	a0032c0036t0004 a0032c0036t0004	a0032c0036t0004g0011 a0032c0036t0004g0011	1	126	0.0079	33	c.32- others(50): Show c.32-70174_32-70142dupATAATATAGTATAGAATAGAATAATATT CTATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(26): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp1 HG01952.hp1 others(2): Show HG01099.hp1 HG01358.hp1 HG01952.hp1 NA18977.hp1 NA19000.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0003c0003 a0007c0018 others(1): Show a0001c0001 a0003c0003 a0007c0018 a0008c0010	a0001c0001t0001 a0003c0003t0001 a0007c0018t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0007c0018t0001 a0008c0010t0001	a0001c0001t0001g0018 a0003c0003t0001g0033 a0003c0003t0001g0067 others(2): Show a0001c0001t0001g0018 a0003c0003t0001g0033 a0003c0003t0001g0067 a0007c0018t0001g0068 a0008c0010t0001g0044	5	126	0.0397	33	c.32- others(50): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DNAAF9_chr20_3244306_3412669	3379587	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	362	0.0028	33	c.283 others(50): Show c.283+1791_283+1792insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	3/36			chr20	TogoVar
DNAH10_chr12_123757301_123940714	123911749	T T	TGGGGGGC others(26): Show TGGGGGGCCTGTCCTGGGGGGGGGTCTGTCCTGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0070 a0003c0005t0002g0070	1	170	0.0059	33	c.101 others(54): Show c.10134+1083_10134+1084insCCTGTCCTGGGGGGGGGTCTGTCC TGGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21724986	G G	GCCAGGTC others(26): Show GCCAGGTCATCCTGTGGACTTGGGCATCACTGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(193): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19066.hp2 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(148): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0028 a0030 a0031 a0032 a0033 a0034 a0036 a0037 a0040 a0041 a0042 a0044 a0047 a0048 a0050 a0051 a0052 a0054 a0055 a0056 a0057 a0058 a0063 a0064 a0065 a0066 a0069 a0071 a0073 a0074 a0075 a0076 a0077 a0079 a0080 a0081 a0083 a0088 a0093 a0094 a0095 a0096 a0097 a0099 a0100 a0101 a0102 a0103 a0104 a0106 a0107 a0110 a0111 a0113 a0114 a0116 a0119 a0120 a0122 a0123 a0124 a0125 a0126 a0127 a0128 a0129 a0130 a0135 a0136 a0137 a0138 a0139 a0140 a0141 a0145 a0148 a0150 a0152 a0154 a0155 a0156 a0157 a0158 a0159 a0160 a0161 a0162 a0164 a0165 a0168 a0174 a0175 a0176 a0178 a0179 a0181 a0182 a0183 a0184 a0186 a0187 a0189 a0191 a0192 a0196 a0197 a0198 a0200 a0201 a0202 a0203 a0207 a0208 a0209 a0211 a0213 a0214 a0215 a0218 a0220 a0221 a0222 a0223 a0224 a0225 a0226	a0001c0001 a0001c0002 a0001c0051 others(177): Show a0001c0001 a0001c0002 a0001c0051 a0002c0090 a0002c0091 a0002c0107 a0002c0141 a0003c0010 a0003c0079 a0003c0084 a0004c0009 a0004c0062 a0004c0081 a0005c0092 a0005c0115 a0005c0116 a0006c0155 a0006c0161 a0007c0109 a0007c0151 a0007c0165 a0008c0262 a0008c0272 a0009c0270 a0010c0004 a0010c0035 a0011c0006 a0011c0048 a0012c0169 a0013c0014 a0013c0167 a0014c0007 a0014c0055 a0015c0120 a0015c0123 a0015c0124 a0016c0268 a0016c0271 a0016c0277 a0017c0016 a0017c0199 a0018c0017 a0019c0003 a0020c0044 a0020c0101 a0021c0032 a0021c0050 a0022c0005 a0023c0015 a0024c0144 a0025c0152 a0028c0083 a0030c0013 a0031c0218 a0031c0263 a0032c0244 a0033c0021 a0034c0020 a0036c0229 a0036c0237 a0037c0224 a0040c0018 a0041c0253 a0041c0254 a0042c0022 a0044c0095 a0047c0175 a0048c0133 a0050c0134 a0051c0077 a0052c0099 a0054c0025 a0055c0026 a0056c0027 a0057c0028 a0058c0029 a0063c0030 a0064c0040 a0065c0047 a0066c0041 a0069c0039 a0071c0049 a0073c0031 a0074c0033 a0075c0034 a0076c0102 a0077c0139 a0079c0170 a0080c0164 a0081c0068 a0083c0145 a0088c0158 a0093c0105 a0094c0114 a0095c0113 a0096c0071 a0097c0069 a0099c0154 a0100c0168 a0101c0153 a0102c0140 a0103c0166 a0104c0147 a0106c0156 a0107c0173 a0110c0103 a0111c0087 a0113c0080 a0114c0056 a0116c0060 a0119c0023 a0120c0058 a0122c0182 a0123c0181 a0124c0065 a0125c0086 a0126c0064 a0127c0085 a0128c0063 a0129c0066 a0130c0067 a0135c0137 a0136c0136 a0137c0174 a0138c0135 a0139c0130 a0140c0125 a0141c0121 a0145c0076 a0148c0127 a0150c0129 a0152c0094 a0154c0178 a0155c0176 a0156c0177 a0157c0179 a0158c0180 a0159c0251 a0160c0240 a0161c0250 a0162c0239 a0164c0193 a0165c0184 a0168c0183 a0174c0185 a0175c0242 a0176c0216 a0178c0243 a0179c0264 a0181c0265 a0182c0273 a0183c0211 a0184c0276 a0186c0247 a0187c0248 a0189c0206 a0191c0201 a0192c0200 a0196c0215 a0197c0194 a0198c0207 a0200c0195 a0201c0208 a0202c0241 a0203c0231 a0207c0235 a0208c0232 a0209c0234 a0211c0233 a0213c0238 a0214c0220 a0215c0221 a0218c0275 a0220c0255 a0221c0256 a0222c0258 a0223c0259 a0224c0261 a0225c0257 a0226c0260	a0001c0001t0004 a0001c0002t0004 a0001c0051t0004 others(179): Show a0001c0001t0004 a0001c0002t0004 a0001c0051t0004 a0002c0090t0020 a0002c0091t0002 a0002c0107t0002 a0002c0141t0002 a0003c0010t0001 a0003c0079t0001 a0003c0084t0001 a0004c0009t0002 a0004c0009t0004 a0004c0062t0002 a0004c0081t0002 a0005c0092t0001 a0005c0115t0001 a0005c0116t0018 a0006c0155t0003 a0006c0161t0008 a0007c0109t0001 a0007c0151t0006 a0007c0165t0001 a0008c0262t0001 a0008c0272t0001 a0009c0270t0006 a0010c0004t0002 a0010c0035t0002 a0011c0006t0002 a0011c0048t0005 a0012c0169t0008 a0013c0014t0002 a0013c0167t0004 a0014c0007t0003 a0014c0055t0003 a0015c0120t0002 a0015c0123t0004 a0015c0124t0002 a0016c0268t0002 a0016c0271t0002 a0016c0277t0002 a0017c0016t0003 a0017c0199t0003 a0018c0017t0011 a0019c0003t0001 a0020c0044t0002 a0020c0101t0004 a0021c0032t0003 a0021c0050t0003 a0022c0005t0001 a0023c0015t0015 a0024c0144t0002 a0025c0152t0003 a0028c0083t0004 a0030c0013t0001 a0031c0218t0002 a0031c0263t0002 a0032c0244t0003 a0033c0021t0002 a0033c0021t0004 a0034c0020t0006 a0036c0229t0005 a0036c0237t0005 a0037c0224t0001 a0040c0018t0001 a0041c0253t0003 a0041c0254t0003 a0042c0022t0004 a0044c0095t0001 a0047c0175t0001 a0048c0133t0004 a0050c0134t0001 a0051c0077t0002 a0052c0099t0001 a0054c0025t0005 a0055c0026t0003 a0056c0027t0001 a0057c0028t0001 a0058c0029t0019 a0063c0030t0004 a0064c0040t0005 a0065c0047t0001 a0066c0041t0004 a0069c0039t0001 a0071c0049t0005 a0073c0031t0004 a0074c0033t0001 a0075c0034t0001 a0076c0102t0005 a0077c0139t0003 a0079c0170t0001 a0080c0164t0005 a0081c0068t0004 a0083c0145t0001 a0088c0158t0001 a0093c0105t0010 a0094c0114t0001 a0095c0113t0002 a0096c0071t0001 a0097c0069t0004 a0099c0154t0003 a0100c0168t0009 a0101c0153t0003 a0102c0140t0004 a0103c0166t0014 a0104c0147t0009 a0106c0156t0004 a0107c0173t0005 a0110c0103t0001 a0111c0087t0002 a0113c0080t0003 a0114c0056t0001 a0116c0060t0001 a0119c0023t0005 a0120c0058t0022 a0122c0182t0008 a0123c0181t0001 a0124c0065t0003 a0125c0086t0001 a0126c0064t0002 a0127c0085t0003 a0128c0063t0001 a0129c0066t0003 a0130c0067t0014 a0135c0137t0001 a0136c0136t0001 a0137c0174t0002 a0138c0135t0003 a0139c0130t0002 a0140c0125t0004 a0141c0121t0001 a0145c0076t0004 a0148c0127t0003 a0150c0129t0002 a0152c0094t0027 a0154c0178t0002 a0155c0176t0002 a0156c0177t0002 a0157c0179t0001 a0158c0180t0006 a0159c0251t0004 a0160c0240t0004 a0161c0250t0002 a0162c0239t0003 a0164c0193t0004 a0165c0184t0001 a0168c0183t0004 a0174c0185t0001 a0175c0242t0001 a0176c0216t0003 a0178c0243t0002 a0179c0264t0005 a0181c0265t0003 a0182c0273t0017 a0183c0211t0012 a0184c0276t0013 a0186c0247t0002 a0187c0248t0001 a0189c0206t0004 a0191c0201t0003 a0192c0200t0012 a0196c0215t0003 a0197c0194t0001 a0198c0207t0002 a0200c0195t0002 a0201c0208t0006 a0202c0241t0001 a0203c0231t0005 a0207c0235t0001 a0208c0232t0003 a0209c0234t0005 a0211c0233t0002 a0213c0238t0003 a0214c0220t0001 a0215c0221t0001 a0218c0275t0002 a0220c0255t0002 a0221c0256t0007 a0222c0258t0007 a0223c0259t0007 a0224c0261t0007 a0225c0257t0007 a0226c0260t0016	a0001c0001t0004g0253 a0001c0001t0004g0277 a0001c0002t0004g0296 others(193): Show a0001c0001t0004g0253 a0001c0001t0004g0277 a0001c0002t0004g0296 a0001c0002t0004g0297 a0001c0051t0004g0267 a0002c0090t0020g0027 a0002c0091t0002g0015 a0002c0107t0002g0067 a0002c0141t0002g0026 a0003c0010t0001g0037 a0003c0010t0001g0062 a0003c0079t0001g0019 a0003c0084t0001g0032 a0004c0009t0002g0038 a0004c0009t0004g0275 a0004c0062t0002g0281 a0004c0081t0002g0061 a0005c0092t0001g0060 a0005c0115t0001g0098 a0005c0116t0018g0097 a0006c0155t0003g0022 a0006c0161t0008g0099 a0007c0109t0001g0092 a0007c0151t0006g0025 a0007c0165t0001g0008 a0008c0262t0001g0139 a0008c0272t0001g0185 a0009c0270t0006g0148 a0010c0004t0002g0237 a0010c0004t0002g0247 a0010c0035t0002g0283 a0011c0006t0002g0248 a0011c0006t0002g0298 a0011c0048t0005g0259 a0012c0169t0008g0116 a0013c0014t0002g0053 a0013c0167t0004g0049 a0014c0007t0003g0288 a0014c0007t0003g0289 a0014c0055t0003g0234 a0015c0120t0002g0070 a0015c0123t0004g0071 a0015c0124t0002g0103 a0016c0268t0002g0150 a0016c0271t0002g0153 a0016c0277t0002g0155 a0017c0016t0003g0172 a0017c0016t0003g0173 a0017c0199t0003g0141 a0018c0017t0011g0170 a0018c0017t0011g0171 a0019c0003t0001g0270 a0019c0003t0001g0271 a0020c0044t0002g0269 a0020c0101t0004g0080 a0021c0032t0003g0258 a0021c0050t0003g0264 a0022c0005t0001g0265 a0022c0005t0001g0284 a0023c0015t0015g0082 a0023c0015t0015g0083 a0024c0144t0002g0051 a0025c0152t0003g0104 a0028c0083t0004g0039 a0030c0013t0001g0089 a0030c0013t0001g0101 a0031c0218t0002g0130 a0031c0263t0002g0140 a0032c0244t0003g0180 a0033c0021t0002g0144 a0033c0021t0004g0152 a0034c0020t0006g0138 a0034c0020t0006g0145 a0036c0229t0005g0207 a0036c0237t0005g0201 a0037c0224t0001g0218 a0040c0018t0001g0128 a0040c0018t0001g0157 a0041c0253t0003g0179 a0041c0254t0003g0161 a0042c0022t0004g0079 a0044c0095t0001g0065 a0047c0175t0001g0001 a0048c0133t0004g0285 a0050c0134t0001g0078 a0051c0077t0002g0046 a0052c0099t0001g0109 a0054c0025t0005g0262 a0055c0026t0003g0250 a0056c0027t0001g0073 a0057c0028t0001g0041 a0058c0029t0019g0072 a0063c0030t0004g0254 a0064c0040t0005g0059 a0065c0047t0001g0114 a0066c0041t0004g0274 a0069c0039t0001g0263 a0071c0049t0005g0252 a0073c0031t0004g0268 a0074c0033t0001g0244 a0075c0034t0001g0004 a0076c0102t0005g0093 a0077c0139t0003g0279 a0079c0170t0001g0117 a0080c0164t0005g0013 a0081c0068t0004g0251 a0083c0145t0001g0240 a0088c0158t0001g0012 a0093c0105t0010g0024 a0094c0114t0001g0110 a0095c0113t0002g0111 a0096c0071t0001g0112 a0097c0069t0004g0249 a0099c0154t0003g0272 a0100c0168t0009g0121 a0101c0153t0003g0077 a0102c0140t0004g0050 a0103c0166t0014g0006 a0104c0147t0009g0273 a0106c0156t0004g0056 a0107c0173t0005g0016 a0110c0103t0001g0095 a0111c0087t0002g0020 a0113c0080t0003g0276 a0114c0056t0001g0118 a0116c0060t0001g0005 a0119c0023t0005g0119 a0120c0058t0022g0002 a0122c0182t0008g0044 a0123c0181t0001g0003 a0124c0065t0003g0115 a0125c0086t0001g0033 a0126c0064t0002g0290 a0127c0085t0003g0036 a0128c0063t0001g0113 a0129c0066t0003g0090 a0130c0067t0014g0081 a0135c0137t0001g0238 a0136c0136t0001g0239 a0137c0174t0002g0023 a0138c0135t0003g0007 a0139c0130t0002g0017 a0140c0125t0004g0236 a0141c0121t0001g0085 a0145c0076t0004g0084 a0148c0127t0003g0086 a0150c0129t0002g0074 a0152c0094t0027g0100 a0154c0178t0002g0126 a0155c0176t0002g0124 a0156c0177t0002g0123 a0157c0179t0001g0125 a0158c0180t0006g0122 a0159c0251t0004g0198 a0160c0240t0004g0132 a0161c0250t0002g0133 a0162c0239t0003g0215 a0164c0193t0004g0188 a0165c0184t0001g0225 a0168c0183t0004g0211 a0174c0185t0001g0224 a0175c0242t0001g0129 a0176c0216t0003g0158 a0178c0243t0002g0195 a0179c0264t0005g0146 a0181c0265t0003g0147 a0182c0273t0017g0149 a0183c0211t0012g0232 a0184c0276t0013g0154 a0186c0247t0002g0167 a0187c0248t0001g0230 a0189c0206t0004g0174 a0191c0201t0003g0131 a0192c0200t0012g0134 a0196c0215t0003g0202 a0197c0194t0001g0159 a0198c0207t0002g0166 a0200c0195t0002g0168 a0201c0208t0006g0177 a0202c0241t0001g0194 a0203c0231t0005g0192 a0207c0235t0001g0206 a0208c0232t0003g0208 a0209c0234t0005g0212 a0211c0233t0002g0205 a0213c0238t0003g0193 a0214c0220t0001g0200 a0215c0221t0001g0233 a0218c0275t0002g0183 a0220c0255t0002g0160 a0221c0256t0007g0221 a0222c0258t0007g0228 a0223c0259t0007g0220 a0224c0261t0007g0227 a0225c0257t0007g0222 a0226c0260t0016g0226	196	298	0.6577	33	c.726 others(50): Show c.7267-808_7267-807insCTTGGGCATCACTGGTCCAGGTCATCCT GTGGA	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	44/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 NA18959.hp2 HG00423.hp1 HG00621.hp2 NA18959.hp2	a0006 a0037 a0206 a0006 a0037 a0206	a0006c0142 a0037c0226 a0206c0230 a0006c0142 a0037c0226 a0206c0230	a0006c0142t0003 a0037c0226t0001 a0206c0230t0010 a0006c0142t0003 a0037c0226t0001 a0206c0230t0010	a0006c0142t0003g0055 a0037c0226t0001g0136 a0206c0230t0010g0203 a0006c0142t0003g0055 a0037c0226t0001g0136 a0206c0230t0010g0203	3	298	0.0101	33	c.100 others(52): Show c.10026+466_10026+467insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH12_chr3_57288700_57549344	57305332	C C	CATTGCCG others(26): Show CATTGCCGCCTTTTCCCCCAGTTCAAAGCCTGCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0147 a0019c0030t0001g0147	1	266	0.0038	33	c.111 others(54): Show c.11190-3394_11190-3393insAGCAGGCTTTGAACTGGGGGAAAA GGCGGCAAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57361444	C C	CTATATAT others(26): Show CTATATATATATACACACACACACTATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp1 HG02559.hp2 HG02886.hp1	a0013 a0020 a0013 a0020	a0013c0009 a0020c0019 a0013c0009 a0020c0019	a0013c0009t0001 a0020c0019t0001 a0013c0009t0001 a0020c0019t0001	a0013c0009t0001g0111 a0020c0019t0001g0113 a0013c0009t0001g0111 a0020c0019t0001g0113	2	266	0.0075	33	c.936 others(52): Show c.9360+2149_9360+2150insTATATATATAGTGTGTGTGTGTATAT ATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	58/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	266	0.0038	33	c.730 others(52): Show c.7305+1447_7305+1448insATATATATATATATATATTTTTTTTT TTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	266	0.0038	33	c.730 others(52): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT TTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0028 a0028	a0028c0021 a0028c0021	a0028c0021t0001 a0028c0021t0001	a0028c0021t0001g0098 a0028c0021t0001g0098	1	266	0.0038	33	c.133 others(52): Show c.1335+1673_1335+1674insATATATATATATATATTTTTTTTTTT TTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH17_chr17_78418697_78582396	78541139	G G	GGGTGGGG others(26): Show GGGTGGGGGGGTGAGCGGGGTGGGGGGATGAGCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp2 HG03471.hp2 HG01243.hp2 HG02886.hp2 HG03471.hp2	a0004 a0029 a0103 a0004 a0029 a0103	a0004c0199 a0029c0201 a0103c0075 a0004c0199 a0029c0201 a0103c0075	a0004c0199t0002 a0029c0201t0001 a0103c0075t0001 a0004c0199t0002 a0029c0201t0001 a0103c0075t0001	a0004c0199t0002g0141 a0029c0201t0001g0140 a0103c0075t0001g0011 a0004c0199t0002g0141 a0029c0201t0001g0140 a0103c0075t0001g0011	3	252	0.0119	33	c.253 others(52): Show c.2533-1292_2533-1260dupTGCTCATCCCCCCACCCCGCTCACCC CCCCACC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH3_chr16_20928111_21155846	20980260	T T	TTATAATA others(26): Show TTATAATATACATCATATATTATAATATACATCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp1 others(31): Show HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01258.hp1 HG01496.hp2 HG02004.hp2 HG02083.hp2 HG02258.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp2 HG03130.hp2 HG03654.hp1 HG03704.hp2 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18967.hp1 NA18968.hp2 NA18977.hp2 NA19012.hp1 NA19083.hp2 NA19091.hp2 NA20129.hp1	a0001 a0003 a0012 others(5): Show a0001 a0003 a0012 a0020 a0027 a0036 a0039 a0055	a0001c0002 a0001c0011 a0001c0022 others(9): Show a0001c0002 a0001c0011 a0001c0022 a0001c0034 a0001c0074 a0003c0005 a0012c0030 a0020c0038 a0027c0040 a0036c0061 a0039c0069 a0055c0096	a0001c0002t0001 a0001c0011t0002 a0001c0022t0001 others(9): Show a0001c0002t0001 a0001c0011t0002 a0001c0022t0001 a0001c0034t0001 a0001c0074t0001 a0003c0005t0001 a0012c0030t0001 a0020c0038t0001 a0027c0040t0001 a0036c0061t0001 a0039c0069t0001 a0055c0096t0001	a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0155 others(31): Show a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0168 a0001c0002t0001g0172 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0202 a0001c0002t0001g0215 a0001c0002t0001g0231 a0001c0011t0002g0006 a0001c0011t0002g0013 a0001c0022t0001g0120 a0001c0022t0001g0161 a0001c0034t0001g0057 a0001c0034t0001g0060 a0001c0074t0001g0034 a0003c0005t0001g0085 a0003c0005t0001g0092 a0003c0005t0001g0094 a0003c0005t0001g0096 a0003c0005t0001g0097 a0003c0005t0001g0098 a0003c0005t0001g0108 a0003c0005t0001g0189 a0012c0030t0001g0186 a0012c0030t0001g0214 a0020c0038t0001g0089 a0027c0040t0001g0110 a0036c0061t0001g0201 a0039c0069t0001g0117 a0055c0096t0001g0074	34	234	0.1453	33	c.772 others(50): Show c.7722-715_7722-714insTGATGTATATTATAATATATGATGTATA TTATA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	49/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(26): Show GGGGGGGGTGGGGGGGTGGGGAGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03209.hp2 HG02895.hp2 HG03209.hp2	a0007 a0007	a0007c0012 a0007c0057 a0007c0012 a0007c0057	a0007c0012t0001 a0007c0057t0001 a0007c0012t0001 a0007c0057t0001	a0007c0012t0001g0179 a0007c0057t0001g0185 a0007c0012t0001g0179 a0007c0057t0001g0185	2	234	0.0086	33	c.324 others(50): Show c.3244-354_3244-353insTCTCTCTCCCCCTCCCCACCCCCCCACC CCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	284	0.0035	33	c.-35 others(48): Show c.-35+546_-35+547insATATATATATATATATTTTTTTTTTTTTTT TTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH9_chr17_11593470_11974748	11661080	T T	TCACATTT others(26): Show TCACATTTATAATTATAAATGTGTAACATTTTAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG03130.hp1 others(3): Show HG02717.hp2 HG02809.hp2 HG03130.hp1 HG03453.hp1 HG03579.hp1 NA20129.hp2	a0019 a0032 a0045 others(2): Show a0019 a0032 a0045 a0050 a0065	a0019c0017 a0032c0089 a0045c0020 others(2): Show a0019c0017 a0032c0089 a0045c0020 a0050c0116 a0065c0067	a0019c0017t0001 a0032c0089t0001 a0045c0020t0001 others(2): Show a0019c0017t0001 a0032c0089t0001 a0045c0020t0001 a0050c0116t0001 a0065c0067t0001	a0019c0017t0001g0009 a0019c0017t0001g0014 a0032c0089t0001g0094 others(3): Show a0019c0017t0001g0009 a0019c0017t0001g0014 a0032c0089t0001g0094 a0045c0020t0001g0005 a0050c0116t0001g0147 a0065c0067t0001g0038	6	178	0.0337	33	c.259 others(52): Show c.2596-3737_2596-3705dupAAATGTGTAACATTTTAGCACATTTA TAATTAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	14/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00639.hp1 HG01123.hp1 others(2): Show HG00099.hp2 HG00639.hp1 HG01123.hp1 HG01256.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0199 a0002c0002t0001g0203 others(2): Show a0002c0002t0001g0194 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0320 a0002c0002t0001g0321	5	336	0.0149	33	c.189 others(46): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GAGAGAGA others(26): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0147 a0001c0005t0001g0147	1	336	0.0030	33	c.124 others(52): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174595	T T	TATATATA others(26): Show TATATATATGATATATATATCATATATATATCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00735.hp2 others(22): Show HG00280.hp1 HG00642.hp2 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG02280.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02818.hp2 HG02965.hp1 HG03225.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG04115.hp1 NA18522.hp1 NA20752.hp1 NA20905.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0010	a0001c0001 a0003c0003 a0008c0010 others(1): Show a0001c0001 a0003c0003 a0008c0010 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0008c0010t0001 a0010c0013t0002	a0001c0001t0001g0288 a0001c0001t0001g0319 a0001c0001t0002g0004 others(22): Show a0001c0001t0001g0288 a0001c0001t0001g0319 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0003c0003t0002g0026 a0008c0010t0001g0287 a0010c0013t0002g0024	25	336	0.0744	33	c.22- others(50): Show c.22-13399_22-13398insGGGATATATATATGATATATATATCATA TATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJA4_chr15_78259562_78287191	78273482	T T	TGTTAGTT others(26): Show TGTTAGTTAGTATGAATGTAGCACACCTGAGCAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	442	0.0023	33	c.418 others(48): Show c.418+283_418+284insGTTAGTTAGTATGAATGTAGCACACCTGAG CAG	DNAJA4	ENSG00000140403.13	transcript	ENST00000394852.8	protein_coding	3/6			chr15	TogoVar
DNAJC12_chr10_67791669_67843188	67842631	C C	CTCTTTCT others(26): Show CTCTTTCTTTATAAATTACCCAGTCCAAGGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	384	0.0026	33	c.-46 others(44): Show c.-4621_-4620insCATACCTTGGACTGGGTAATTTATAAAGAAAGA	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding		4444		chr10	TogoVar
DNAJC15_chr13_43018586_43119213	43024893	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0298 a0002c0003t0008g0298	1	352	0.0028	33	c.108 others(50): Show c.108+1177_108+1178insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0206	1	374	0.0027	33	c.83- others(48): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237085	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	338	0.0030	33	c.29 others(44): Show c.2901_*2902insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2805		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(26): Show GAGAGAGAGAGACAGAGACAGACAGAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01975.hp1 HG02148.hp2 others(2): Show HG01934.hp1 HG01975.hp1 HG02148.hp2 HG02976.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	5	338	0.0148	33	c.29 others(44): Show c.2942_*2943insAGAGAGAGAGACAGAGACAGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNAL1_chr14_73639986_73708732	73648417	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	340	0.0029	33	c.3+3 others(46): Show c.3+3375_3+3376insATATATATATATATATATATATATATATATAT A	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	1/7			chr14	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	279	0.0036	33	c.59 others(44): Show c.5994_*5995insAAAAAAAAATATATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar

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