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
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(12): Show CCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0164 a0001c0002t0008g0164	1	430	0.0023	19	c.-12 others(36): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02257.hp1 HG02257.hp2 others(10): Show HG02027.hp2 HG02257.hp1 HG02257.hp2 HG02895.hp2 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18948.hp1 NA18960.hp2 NA19010.hp1 NA19011.hp2 NA19079.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0095 a0001c0001t0001g0219 a0001c0001t0001g0220 others(10): Show a0001c0001t0001g0095 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0312 a0001c0001t0003g0269 a0001c0001t0005g0270 a0001c0001t0008g0273	13	324	0.0401	19	c.327 others(36): Show c.327-2566_327-2548dupAAAAAAAAAAAAAAAAAAA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31214059	C C	CAATTCCT others(12): Show CAATTCCTTGGCTGGGTTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(106): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0030 a0031 a0032 a0033 a0035 a0036	a0001c0001 a0001c0002 a0001c0022 others(53): Show a0001c0001 a0001c0002 a0001c0022 a0001c0054 a0002c0005 a0002c0009 a0002c0012 a0002c0016 a0002c0020 a0002c0024 a0002c0052 a0002c0059 a0003c0003 a0003c0008 a0003c0014 a0003c0062 a0004c0004 a0004c0011 a0004c0055 a0005c0007 a0005c0023 a0005c0045 a0006c0006 a0006c0032 a0007c0018 a0007c0019 a0008c0010 a0009c0013 a0010c0031 a0010c0051 a0011c0049 a0011c0060 a0012c0040 a0012c0048 a0013c0015 a0014c0017 a0015c0043 a0015c0056 a0016c0028 a0017c0027 a0018c0061 a0019c0033 a0020c0034 a0022c0025 a0023c0041 a0024c0038 a0025c0039 a0026c0042 a0027c0058 a0028c0046 a0030c0037 a0031c0047 a0032c0036 a0033c0050 a0035c0029 a0036c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(73): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0001c0001t0026 a0001c0002t0001 a0001c0002t0013 a0001c0022t0001 a0001c0054t0001 a0002c0005t0001 a0002c0005t0002 a0002c0005t0007 a0002c0009t0001 a0002c0009t0002 a0002c0009t0010 a0002c0012t0002 a0002c0016t0001 a0002c0016t0009 a0002c0020t0028 a0002c0020t0030 a0002c0024t0011 a0002c0052t0025 a0002c0059t0012 a0003c0003t0001 a0003c0003t0002 a0003c0003t0027 a0003c0008t0012 a0003c0008t0015 a0003c0008t0023 a0003c0014t0001 a0003c0014t0010 a0003c0062t0001 a0004c0004t0001 a0004c0011t0001 a0004c0055t0001 a0005c0007t0001 a0005c0007t0002 a0005c0007t0007 a0005c0023t0020 a0005c0045t0018 a0006c0006t0001 a0006c0006t0008 a0006c0032t0003 a0007c0018t0001 a0007c0019t0001 a0008c0010t0001 a0009c0013t0001 a0009c0013t0022 a0010c0031t0001 a0010c0051t0011 a0011c0049t0001 a0011c0060t0003 a0012c0040t0001 a0012c0048t0001 a0013c0015t0001 a0014c0017t0001 a0015c0043t0001 a0015c0056t0021 a0016c0028t0005 a0017c0027t0001 a0018c0061t0001 a0019c0033t0001 a0020c0034t0001 a0022c0025t0006 a0023c0041t0001 a0024c0038t0001 a0025c0039t0003 a0026c0042t0024 a0027c0058t0019 a0028c0046t0029 a0030c0037t0005 a0031c0047t0005 a0032c0036t0004 a0033c0050t0001 a0035c0029t0001 a0036c0021t0017	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0026 others(106): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0008g0021 a0001c0001t0016g0038 a0001c0001t0026g0039 a0001c0002t0001g0025 a0001c0002t0001g0051 a0001c0002t0001g0074 a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0115 a0001c0002t0013g0097 a0001c0022t0001g0036 a0001c0054t0001g0100 a0002c0005t0001g0022 a0002c0005t0001g0040 a0002c0005t0001g0049 a0002c0005t0002g0020 a0002c0005t0007g0092 a0002c0009t0001g0065 a0002c0009t0002g0002 a0002c0009t0010g0023 a0002c0012t0002g0098 a0002c0016t0001g0060 a0002c0016t0009g0014 a0002c0020t0028g0010 a0002c0020t0030g0125 a0002c0024t0011g0016 a0002c0052t0025g0095 a0002c0059t0012g0055 a0003c0003t0001g0027 a0003c0003t0001g0033 a0003c0003t0001g0050 a0003c0003t0001g0067 a0003c0003t0002g0043 a0003c0003t0027g0091 a0003c0008t0012g0117 a0003c0008t0015g0123 a0003c0008t0023g0005 a0003c0014t0001g0059 a0003c0014t0010g0015 a0003c0062t0001g0078 a0004c0004t0001g0006 a0004c0004t0001g0041 a0004c0004t0001g0064 a0004c0004t0001g0083 a0004c0004t0001g0087 a0004c0011t0001g0034 a0004c0011t0001g0085 a0004c0055t0001g0007 a0005c0007t0001g0079 a0005c0007t0001g0120 a0005c0007t0002g0093 a0005c0007t0007g0063 a0005c0023t0020g0110 a0005c0045t0018g0118 a0006c0006t0001g0001 a0006c0006t0001g0019 a0006c0006t0001g0047 a0006c0006t0008g0031 a0006c0032t0003g0077 a0007c0018t0001g0068 a0007c0018t0001g0099 a0007c0019t0001g0052 a0007c0019t0001g0061 a0008c0010t0001g0042 a0009c0013t0001g0017 a0009c0013t0022g0066 a0010c0031t0001g0096 a0010c0051t0011g0121 a0011c0049t0001g0073 a0011c0060t0003g0072 a0012c0040t0001g0048 a0012c0048t0001g0057 a0013c0015t0001g0030 a0013c0015t0001g0102 a0014c0017t0001g0107 a0014c0017t0001g0114 a0015c0043t0001g0112 a0015c0056t0021g0045 a0016c0028t0005g0028 a0017c0027t0001g0124 a0018c0061t0001g0003 a0019c0033t0001g0089 a0020c0034t0001g0013 a0022c0025t0006g0108 a0023c0041t0001g0046 a0024c0038t0001g0053 a0025c0039t0003g0075 a0026c0042t0024g0070 a0027c0058t0019g0116 a0028c0046t0029g0126 a0030c0037t0005g0082 a0031c0047t0005g0081 a0032c0036t0004g0011 a0033c0050t0001g0119 a0035c0029t0001g0071 a0036c0021t0017g0009	109	126	0.8651	19	c.936 others(38): Show c.9362-4361_9362-4360insCCAACCCAGCCAAGGAATT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	64/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31266159	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0098 a0002c0012t0002g0098	1	126	0.0079	19	c.922 others(38): Show c.9225-5162_9225-5144dupTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31321607	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0023 a0002c0009t0010g0023	1	126	0.0079	19	c.922 others(38): Show c.9224+1990_9224+1991insCTTTCTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31473711	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	126	0.0079	19	c.893 others(38): Show c.8937+4394_8937+4395insTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31559640	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	126	0.0079	19	c.821 others(40): Show c.8218-52206_8218-52188dupTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31816822	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0047 a0006c0006t0001g0047	1	126	0.0079	19	c.730 others(38): Show c.7309+3152_7309+3153insGTGTGTGTGTGTGTGTGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	50/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GGGTGTGT others(12): Show GGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18943.hp1 NA20805.hp1 HG02922.hp1 NA18943.hp1 NA20805.hp1	a0003 a0005 a0015 a0003 a0005 a0015	a0003c0014 a0005c0007 a0015c0043 a0003c0014 a0005c0007 a0015c0043	a0003c0014t0001 a0005c0007t0002 a0015c0043t0001 a0003c0014t0001 a0005c0007t0002 a0015c0043t0001	a0003c0014t0001g0059 a0005c0007t0002g0093 a0015c0043t0001g0112 a0003c0014t0001g0059 a0005c0007t0002g0093 a0015c0043t0001g0112	3	126	0.0238	19	c.720 others(38): Show c.7201-2571_7201-2570insACACACACACACACACACC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0120 a0005c0007t0001g0120	1	126	0.0079	19	c.720 others(38): Show c.7201-2571_7201-2570insACACACACACACACACACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31865660	A A	AGTGCTCT others(12): Show AGTGCTCTAGATCAATGCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG03942.hp1 HG00140.hp1 HG00280.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0026 a0001c0001t0001 a0001c0001t0008 a0001c0001t0026	a0001c0001t0001g0008 a0001c0001t0008g0021 a0001c0001t0026g0039 a0001c0001t0001g0008 a0001c0001t0008g0021 a0001c0001t0026g0039	3	126	0.0238	19	c.709 others(38): Show c.7098+9527_7098+9528insAAGCATTGATCTAGAGCAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32033626	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0012 a0003c0008t0012	a0003c0008t0012g0117 a0003c0008t0012g0117	1	126	0.0079	19	c.643 others(40): Show c.6439-65131_6439-65113dupCTTTCTTTCTTTCTTTCTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32050974	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0023 a0003c0008t0023	a0003c0008t0023g0005 a0003c0008t0023g0005	1	126	0.0079	19	c.643 others(40): Show c.6439-82461_6439-82460insAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32132993	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02071.hp1 HG02257.hp1 others(1): Show HG00609.hp1 HG02071.hp1 HG02257.hp1 HG02293.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0005c0023 others(1): Show a0001c0001 a0001c0002 a0005c0023 a0007c0019	a0001c0001t0004 a0001c0002t0001 a0005c0023t0020 others(1): Show a0001c0001t0004 a0001c0002t0001 a0005c0023t0020 a0007c0019t0001	a0001c0001t0004g0101 a0001c0002t0001g0104 a0005c0023t0020g0110 others(1): Show a0001c0001t0004g0101 a0001c0002t0001g0104 a0005c0023t0020g0110 a0007c0019t0001g0052	4	126	0.0318	19	c.643 others(40): Show c.6438+83904_6438+83922dupAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32279966	C C	CATATATA others(12): Show CATATATATGTACCCCACAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(31): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18959.hp1 NA18970.hp1 NA18977.hp1 NA18983.hp1 NA18988.hp1 NA19012.hp1 NA20805.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0013 a0014 a0015 a0019 a0020 a0021 a0023 a0026	a0001c0001 a0001c0002 a0002c0005 others(17): Show a0001c0001 a0001c0002 a0002c0005 a0002c0012 a0003c0003 a0003c0062 a0004c0011 a0006c0006 a0007c0019 a0008c0010 a0009c0013 a0011c0060 a0013c0015 a0014c0017 a0015c0043 a0019c0033 a0020c0034 a0021c0035 a0023c0041 a0026c0042	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0002c0005t0001 a0002c0012t0002 a0003c0003t0001 a0003c0003t0002 a0003c0062t0001 a0004c0011t0001 a0004c0011t0002 a0006c0006t0001 a0006c0006t0008 a0007c0019t0001 a0008c0010t0001 a0009c0013t0001 a0009c0013t0022 a0011c0060t0003 a0013c0015t0001 a0014c0017t0001 a0015c0043t0001 a0019c0033t0001 a0020c0034t0001 a0021c0035t0001 a0023c0041t0001 a0026c0042t0024	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0069 others(31): Show a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0004g0101 a0001c0001t0008g0021 a0001c0001t0026g0039 a0001c0002t0001g0074 a0001c0002t0001g0115 a0001c0002t0003g0113 a0002c0005t0001g0040 a0002c0012t0002g0122 a0003c0003t0001g0033 a0003c0003t0001g0067 a0003c0003t0002g0043 a0003c0062t0001g0078 a0004c0011t0001g0034 a0004c0011t0002g0035 a0006c0006t0001g0001 a0006c0006t0008g0031 a0007c0019t0001g0052 a0008c0010t0001g0044 a0009c0013t0001g0017 a0009c0013t0022g0066 a0011c0060t0003g0072 a0013c0015t0001g0102 a0014c0017t0001g0107 a0015c0043t0001g0112 a0019c0033t0001g0089 a0020c0034t0001g0013 a0021c0035t0001g0106 a0023c0041t0001g0046 a0026c0042t0024g0070	34	126	0.2698	19	c.629 others(38): Show c.6290+7562_6290+7563insATGTGGGGTACATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32292302	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03490.hp1 HG02145.hp1 HG03490.hp1	a0001 a0029 a0001 a0029	a0001c0001 a0029c0044 a0001c0001 a0029c0044	a0001c0001t0001 a0029c0044t0014 a0001c0001t0001 a0029c0044t0014	a0001c0001t0001g0026 a0029c0044t0014g0094 a0001c0001t0001g0026 a0029c0044t0014g0094	2	126	0.0159	19	c.611 others(38): Show c.6118-4602_6118-4601insAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0022 a0009c0013t0022	a0009c0013t0022g0066 a0009c0013t0022g0066	1	126	0.0079	19	c.160 others(40): Show c.1602+10039_1602+10057dupTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32712011	A A	AGGCATTT others(12): Show AGGCATTTAGAGCAATGCCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0019 a0019	a0019c0033 a0019c0033	a0019c0033t0001 a0019c0033t0001	a0019c0033t0001g0089 a0019c0033t0001g0089	1	126	0.0079	19	c.650 others(38): Show c.650-12737_650-12719dupAGGCATTGCTCTAAATGCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGCGGGG others(12): Show TGGCGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp1 HG02572.hp1 HG03225.hp1	a0003 a0027 a0003 a0027	a0003c0014 a0027c0058 a0003c0014 a0027c0058	a0003c0014t0010 a0027c0058t0019 a0003c0014t0010 a0027c0058t0019	a0003c0014t0010g0015 a0027c0058t0019g0116 a0003c0014t0010g0015 a0027c0058t0019g0116	2	126	0.0159	19	c.649 others(38): Show c.649+32215_649+32216insCCCCCCCCCCCCCCCCGCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGCG others(12): Show TGGGGGCGGGGGGGGGTTGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0030 a0002c0020t0030	a0002c0020t0030g0125 a0002c0020t0030g0125	1	126	0.0079	19	c.649 others(38): Show c.649+32215_649+32216insCCAACCCCCCCCCGCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(12): Show TGGGGGGGGGGGGGGGTTGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01358.hp1 HG02922.hp1 HG00673.hp1 HG01358.hp1 HG02922.hp1	a0003 a0005 a0024 a0003 a0005 a0024	a0003c0003 a0005c0007 a0024c0038 a0003c0003 a0005c0007 a0024c0038	a0003c0003t0001 a0005c0007t0002 a0024c0038t0001 a0003c0003t0001 a0005c0007t0002 a0024c0038t0001	a0003c0003t0001g0033 a0005c0007t0002g0093 a0024c0038t0001g0053 a0003c0003t0001g0033 a0005c0007t0002g0093 a0024c0038t0001g0053	3	126	0.0238	19	c.649 others(38): Show c.649+32215_649+32216insCCAACCCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(12): Show TGGGGGGGGGGGGGGTTGGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp1 HG02257.hp2 others(4): Show HG02056.hp1 HG02083.hp1 HG02257.hp2 NA18982.hp1 NA19058.hp1 NA19060.hp1 NA19070.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0012 a0016 a0025	a0001c0002 a0002c0005 a0003c0008 others(4): Show a0001c0002 a0002c0005 a0003c0008 a0006c0006 a0012c0040 a0016c0028 a0025c0039	a0001c0002t0013 a0002c0005t0001 a0003c0008t0023 others(4): Show a0001c0002t0013 a0002c0005t0001 a0003c0008t0023 a0006c0006t0001 a0012c0040t0001 a0016c0028t0005 a0025c0039t0003	a0001c0002t0013g0097 a0002c0005t0001g0022 a0003c0008t0023g0005 others(4): Show a0001c0002t0013g0097 a0002c0005t0001g0022 a0003c0008t0023g0005 a0006c0006t0001g0019 a0012c0040t0001g0048 a0016c0028t0005g0028 a0025c0039t0003g0075	7	126	0.0556	19	c.649 others(38): Show c.649+32215_649+32216insCCCAACCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777278	G G	GGTGGGGG others(12): Show GGTGGGGGGGGGGTTGGGGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0006 a0022c0025t0006	a0022c0025t0006g0108 a0022c0025t0006g0108	1	126	0.0079	19	c.649 others(38): Show c.649+32214_649+32215insGCCCCAACCCCCCCCCCAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32844417	A A	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03209.hp1 HG03225.hp1	a0002 a0003 a0002 a0003	a0002c0026 a0003c0014 a0002c0026 a0003c0014	a0002c0026t0006 a0003c0014t0010 a0002c0026t0006 a0003c0014t0010	a0002c0026t0006g0111 a0003c0014t0010g0015 a0002c0026t0006g0111 a0003c0014t0010g0015	2	126	0.0159	19	c.264 others(34): Show c.264+365_264+366insCTTTTCTTTTCTTTTCTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	4/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32863509	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18965.hp1 NA19068.hp1 NA18943.hp1 NA18965.hp1 NA19068.hp1	a0003 a0006 a0036 a0003 a0006 a0036	a0003c0014 a0006c0032 a0036c0021 a0003c0014 a0006c0032 a0036c0021	a0003c0014t0001 a0006c0032t0003 a0036c0021t0017 a0003c0014t0001 a0006c0032t0003 a0036c0021t0017	a0003c0014t0001g0059 a0006c0032t0003g0077 a0036c0021t0017g0009 a0003c0014t0001g0059 a0006c0032t0003g0077 a0036c0021t0017g0009	3	126	0.0238	19	c.94- others(36): Show c.94-13690_94-13689insTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33033554	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0002 a0002c0009t0002g0002	1	126	0.0079	19	c.32- others(36): Show c.32-13355_32-13354insTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33051646	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0065 a0002c0009t0001g0065	1	126	0.0079	19	c.32- others(36): Show c.32-31465_32-31447dupAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02293.hp2 HG02717.hp1 HG01109.hp1 HG02293.hp2 HG02717.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0009 a0004c0004 a0008c0010 a0002c0009 a0004c0004 a0008c0010	a0002c0009t0001 a0004c0004t0001 a0008c0010t0009 a0002c0009t0001 a0004c0004t0001 a0008c0010t0009	a0002c0009t0001g0065 a0004c0004t0001g0083 a0008c0010t0009g0004 a0002c0009t0001g0065 a0004c0004t0001g0083 a0008c0010t0009g0004	3	126	0.0238	19	c.32- others(36): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMRT2_chr9_1045357_1062552	1060726	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01169.hp2 others(4): Show HG00140.hp1 HG01167.hp2 HG01169.hp2 HG02040.hp2 HG02148.hp2 HG03239.hp2 NA18947.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0001 a0005c0006 a0001c0003 a0002c0001 a0005c0006	a0001c0003t0003 a0001c0003t0005 a0002c0001t0001 others(1): Show a0001c0003t0003 a0001c0003t0005 a0002c0001t0001 a0005c0006t0012	a0001c0003t0003g0018 a0001c0003t0005g0013 a0002c0001t0001g0001 others(1): Show a0001c0003t0003g0018 a0001c0003t0005g0013 a0002c0001t0001g0001 a0005c0006t0012g0011	7	488	0.0143	19	c.34 others(30): Show c.3453_*3454insTTTTTTTTTTTTTTTTTTT	DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding		3175		chr9	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAATAT others(12): Show AATAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00597.hp1 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0160 a0001c0001t0001g0073 a0001c0001t0001g0160	2	324	0.0062	19	c.836 others(34): Show c.836-900_836-899insATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079301	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01515.hp1 HG01928.hp1 others(22): Show HG01361.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG02015.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02615.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03471.hp1 HG03540.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp2 NA18972.hp2 NA18980.hp1 NA18985.hp2 NA19085.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0120 others(21): Show a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0221 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0282	25	324	0.0772	19	c.836 others(34): Show c.836-879_836-878insATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMWD_chr19_45777947_45797845	45795887	G G	GCCCCTCC others(12): Show GCCCCTCCTCCTCCTCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	440	0.0023	19	c.-31 others(30): Show c.-3132_-3131insCGAGGAGGAGGAGGAGGGG	DMWD	ENSG00000185800.12	transcript	ENST00000270223.7	protein_coding		3043		chr19	TogoVar
DMWD_chr19_45777947_45797845	45795916	C C	CCTCCTCG others(12): Show CCTCCTCGCCCTCCTCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	19	c.-31 others(30): Show c.-3161_-3160insAGAGGAGGAGGGCGAGGAG	DMWD	ENSG00000185800.12	transcript	ENST00000270223.7	protein_coding		3072		chr19	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19060.hp1 NA18962.hp2 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0121 a0001c0002t0006g0120 a0001c0002t0001g0121 a0001c0002t0006g0120	2	238	0.0084	19	c.88- others(34): Show c.88-8686_88-8685insATATATATATATATATATT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089293	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	238	0.0042	19	c.88- others(34): Show c.88-8686_88-8685insATATATATATATATATATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43			chr5	TogoVar
DMXL1_chr5_119066087_119254127	119164916	A A	AATAATAT others(12): Show AATAATATATATTTTACAAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02723.hp2 HG02735.hp2 others(5): Show HG01256.hp1 HG02723.hp2 HG02735.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG04199.hp2 NA19043.hp1	a0001 a0018 a0001 a0018	a0001c0002 a0001c0006 a0018c0024 a0001c0002 a0001c0006 a0018c0024	a0001c0002t0002 a0001c0006t0002 a0018c0024t0002 a0001c0002t0002 a0001c0006t0002 a0018c0024t0002	a0001c0002t0002g0015 a0001c0006t0002g0016 a0001c0006t0002g0017 others(5): Show a0001c0002t0002g0015 a0001c0006t0002g0016 a0001c0006t0002g0017 a0001c0006t0002g0018 a0001c0006t0002g0019 a0001c0006t0002g0020 a0001c0006t0002g0022 a0018c0024t0002g0021	8	238	0.0336	19	c.487 others(36): Show c.4872+251_4872+252insTTTACAATATAATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51576183	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 NA18952.hp1 NA19005.hp2 others(2): Show HG00597.hp2 NA18952.hp1 NA19005.hp2 NA19055.hp1 NA21309.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0009 a0004c0005 a0005c0009	a0004c0005t0001 a0005c0009t0004 a0004c0005t0001 a0005c0009t0004	a0004c0005t0001g0208 a0004c0005t0001g0209 a0004c0005t0001g0321 others(2): Show a0004c0005t0001g0208 a0004c0005t0001g0209 a0004c0005t0001g0321 a0004c0005t0001g0325 a0005c0009t0004g0134	5	346	0.0145	19	c.88- others(29): Show c.88-21_88-3dupTTTTTTTTTTTTTTTTTTT	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DNA2_chr10_68409064_68476973	68412218	T T	TTTTTTTG others(12): Show TTTTTTTGTTTTTGTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02258.hp1 HG02683.hp1 others(4): Show HG00280.hp2 HG02258.hp1 HG02683.hp1 HG03491.hp2 HG03492.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0004 a0001c0016t0004 a0001c0006t0004 a0001c0016t0004	a0001c0006t0004g0048 a0001c0006t0004g0049 a0001c0006t0004g0050 others(4): Show a0001c0006t0004g0048 a0001c0006t0004g0049 a0001c0006t0004g0050 a0001c0006t0004g0051 a0001c0006t0004g0052 a0001c0006t0004g0088 a0001c0016t0004g0053	7	326	0.0215	19	c.28 others(30): Show c.2820_*2821insCAAAAACAAAAACAAAAAA	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding		1845		chr10	TogoVar
DNAAF1_chr16_84140308_84182918	84141090	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02886.hp2 HG03139.hp1 others(1): Show HG02145.hp2 HG02886.hp2 HG03139.hp1 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0025 a0001c0001 a0003c0025	a0001c0001t0002 a0003c0025t0001 a0001c0001t0002 a0003c0025t0001	a0001c0001t0002g0111 a0001c0001t0002g0427 a0001c0001t0002g0429 others(1): Show a0001c0001t0002g0111 a0001c0001t0002g0427 a0001c0001t0002g0429 a0003c0025t0001g0430	4	456	0.0088	19	c.-43 others(30): Show c.-4351_-4350insAAAAAAAAAAAAAAAAAAA	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding		4217		chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84141099	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0151 a0001c0008t0001g0151	1	456	0.0022	19	c.-43 others(30): Show c.-4342_-4341insAAAAAAAAAAAAAAAAAAC	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding		4208		chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTCT others(12): Show CTCTCTCTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02486.hp2 others(2): Show HG01109.hp1 HG02055.hp2 HG02486.hp2 HG03041.hp1 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0007c0038 a0001c0001 a0007c0010 a0007c0038	a0001c0001t0004 a0007c0010t0004 a0007c0038t0004 a0001c0001t0004 a0007c0010t0004 a0007c0038t0004	a0001c0001t0004g0413 a0007c0010t0004g0410 a0007c0010t0004g0412 others(2): Show a0001c0001t0004g0413 a0007c0010t0004g0410 a0007c0010t0004g0412 a0007c0010t0004g0414 a0007c0038t0004g0411	5	456	0.0110	19	c.125 others(34): Show c.125-410_125-409insCTCTCTCTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84150084	G G	GAAGAAAA others(12): Show GAAGAAAAAGGAAAGGAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0001 a0025c0031t0001	a0025c0031t0001g0426 a0025c0031t0001g0426	1	456	0.0022	19	c.261 others(34): Show c.261-165_261-147dupAGAAAAAGGAAAGGAGAAA	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55167634	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAGAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(72): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp1 HG03491.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18983.hp2 NA18991.hp2 NA18998.hp1 NA19003.hp1 NA19010.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19086.hp2 NA19091.hp2 NA20129.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0011	a0002c0003 a0002c0006 a0003c0002 others(2): Show a0002c0003 a0002c0006 a0003c0002 a0005c0008 a0011c0015	a0002c0003t0001 a0002c0006t0001 a0003c0002t0001 others(2): Show a0002c0003t0001 a0002c0006t0001 a0003c0002t0001 a0005c0008t0001 a0011c0015t0001	a0002c0003t0001g0072 a0002c0003t0001g0099 a0002c0003t0001g0100 others(18): Show a0002c0003t0001g0072 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0006t0001g0094 a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0008 a0003c0002t0001g0023 a0003c0002t0001g0039 a0003c0002t0001g0040 a0003c0002t0001g0044 a0003c0002t0001g0076 a0003c0002t0001g0077 a0003c0002t0001g0080 a0003c0002t0001g0083 a0003c0002t0001g0084 a0003c0002t0001g0086 a0003c0002t0001g0093 a0005c0008t0001g0038 a0011c0015t0001g0085	75	398	0.1884	19	c.-11 others(30): Show c.-1117_-1116insCTTTTTTCTTTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1022		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55169933	G G	GTATTTAT others(12): Show GTATTTATTTATTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA20129.hp1 NA19043.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0099 a0002c0003t0001g0100	2	398	0.0050	19	c.-34 others(30): Show c.-3416_-3415insAATAAATAATAAATAAATA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		3321		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170873	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	398	0.0025	19	c.-43 others(30): Show c.-4356_-4355insGAGAGAGAGAGAGAGAGAG	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4261		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55498593	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02572.hp1 HG02818.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0002 a0004c0005t0003 a0003c0003t0002 a0004c0005t0003	a0003c0003t0002g0306 a0004c0005t0003g0303 a0003c0003t0002g0306 a0004c0005t0003g0303	2	338	0.0059	19	c.-25 others(34): Show c.-255-28_-255-10dupTTTTTTTTTTTTTTTTTTT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	1/9			chr15	TogoVar
DNAAF6_chrX_107201611_107249247	107229127	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18522.hp1 HG02135.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0002g0171 a0001c0001t0001g0155 a0001c0001t0002g0171	2	296	0.0068	19	c.429 others(36): Show c.429+6296_429+6314dupTTTTTTTTTTTTTTTTTTT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
DNAAF9_chr20_3244306_3412669	3268897	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp1 HG01074.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0312 a0001c0001t0007g0313	2	362	0.0055	19	c.278 others(38): Show c.2786+1511_2786+1529dupAAAAAAAAAAAAAAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	30/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3310333	A A	AAAAGAAA others(12): Show AAAAGAAAGAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02109.hp1 others(15): Show HG00735.hp2 HG01891.hp2 HG02109.hp1 HG02155.hp1 HG02615.hp2 HG02723.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp1 HG03195.hp1 HG03195.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA19054.hp2 NA19064.hp1 NA19083.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 others(2): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0012 a0001c0003t0038	a0001c0003t0004g0007 a0001c0003t0004g0024 a0001c0003t0004g0040 others(15): Show a0001c0003t0004g0007 a0001c0003t0004g0024 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0054 a0001c0003t0005g0066 a0001c0003t0005g0324 a0001c0003t0005g0325 a0001c0003t0005g0327 a0001c0003t0005g0328 a0001c0003t0005g0340 a0001c0003t0009g0044 a0001c0003t0009g0045 a0001c0003t0009g0059 a0001c0003t0012g0033 a0001c0003t0012g0039 a0001c0003t0038g0359	18	362	0.0497	19	c.167 others(38): Show c.1678+4699_1678+4700insCTTTCTTTTTTCTTTCTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3328188	T T	TTTTTTGT others(12): Show TTTTTTGTTTGTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02683.hp1 others(3): Show HG02109.hp1 HG02647.hp2 HG02683.hp1 HG03098.hp2 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009	a0001c0003t0004g0051 a0001c0003t0005g0028 a0001c0003t0009g0044 others(3): Show a0001c0003t0004g0051 a0001c0003t0005g0028 a0001c0003t0009g0044 a0001c0003t0009g0045 a0001c0003t0009g0059 a0001c0003t0009g0060	6	362	0.0166	19	c.110 others(38): Show c.1101-1905_1101-1904insCAAAACAAACAAACAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	12/36			chr20	TogoVar

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