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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DMD_chrX_31114222_33216549	32205006	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCACAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG03195.hp2 HG02647.hp1 HG02717.hp1 HG03195.hp2	a0002 a0008 a0002 a0008	a0002c0005 a0002c0009 a0008c0010 a0002c0005 a0002c0009 a0008c0010	a0002c0005t0007 a0002c0009t0010 a0008c0010t0009 a0002c0005t0007 a0002c0009t0010 a0008c0010t0009	a0002c0005t0007g0092 a0002c0009t0010g0023 a0008c0010t0009g0004 a0002c0005t0007g0092 a0002c0009t0010g0023 a0008c0010t0009g0004	3	126	0.0238	18	c.643 others(39): Show c.6438+11909_6438+11910insATGTGAGAGAGAGAGAGA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32227264	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0035 a0035	a0035c0029 a0035c0029	a0035c0029t0001 a0035c0029t0001	a0035c0029t0001g0071 a0035c0029t0001g0071	1	126	0.0079	18	c.629 others(39): Show c.6291-10219_6291-10202dupATATATATATATATATAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32252689	T T	TATTAATA others(11): Show TATTAATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0023 a0002c0009t0010g0023	1	126	0.0079	18	c.629 others(39): Show c.6290+34839_6290+34840insTTATATATATTTATTAAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32292302	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01928.hp1 HG02572.hp1 others(5): Show HG00621.hp1 HG01928.hp1 HG02572.hp1 HG02976.hp1 HG03492.hp1 NA18612.hp1 NA18990.hp1 NA19062.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0014 a0027 a0034	a0001c0001 a0001c0022 a0002c0009 others(5): Show a0001c0001 a0001c0022 a0002c0009 a0002c0016 a0004c0004 a0014c0017 a0027c0058 a0034c0030	a0001c0001t0001 a0001c0022t0001 a0002c0009t0002 others(5): Show a0001c0001t0001 a0001c0022t0001 a0002c0009t0002 a0002c0016t0009 a0004c0004t0002 a0014c0017t0001 a0027c0058t0019 a0034c0030t0003	a0001c0001t0001g0062 a0001c0022t0001g0036 a0002c0009t0002g0002 others(5): Show a0001c0001t0001g0062 a0001c0022t0001g0036 a0002c0009t0002g0002 a0002c0016t0009g0014 a0004c0004t0002g0086 a0014c0017t0001g0114 a0027c0058t0019g0116 a0034c0030t0003g0029	8	126	0.0635	18	c.611 others(37): Show c.6118-4602_6118-4601insAAAAAAAAAAAAAAAAAA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02451.hp2 HG01106.hp1 HG02451.hp2	a0002 a0013 a0002 a0013	a0002c0024 a0013c0015 a0002c0024 a0013c0015	a0002c0024t0011 a0013c0015t0001 a0002c0024t0011 a0013c0015t0001	a0002c0024t0011g0016 a0013c0015t0001g0102 a0002c0024t0011g0016 a0013c0015t0001g0102	2	126	0.0159	18	c.592 others(37): Show c.5923-2684_5923-2667dupTTTTTTTTTTTTTTTTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32332413	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0012 a0003c0008t0012	a0003c0008t0012g0117 a0003c0008t0012g0117	1	126	0.0079	18	c.592 others(37): Show c.5922+9669_5922+9686dupACACACACACACACACAC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32360800	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0057 a0005c0057	a0005c0057t0001 a0005c0057t0001	a0005c0057t0001g0109 a0005c0057t0001g0109	1	126	0.0079	18	c.532 others(37): Show c.5325+1970_5325+1987dupATTATTATTATTATTATT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	37/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32394908	C C	CAAAAACA others(11): Show CAAAAACAAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA20805.hp1 HG00738.hp1 NA20805.hp1	a0008 a0015 a0008 a0015	a0008c0010 a0015c0043 a0008c0010 a0015c0043	a0008c0010t0001 a0015c0043t0001 a0008c0010t0001 a0015c0043t0001	a0008c0010t0001g0042 a0015c0043t0001g0112 a0008c0010t0001g0042 a0015c0043t0001g0112	2	126	0.0159	18	c.423 others(37): Show c.4234-4728_4234-4727insTGTTTTGTTTTTGTTTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	30/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32435275	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02040.hp1 HG02071.hp1 others(13): Show HG01515.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp1 HG02683.hp1 HG02735.hp1 NA18948.hp1 NA18952.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18988.hp1 NA19000.hp1 NA19004.hp1 NA19060.hp1 NA19068.hp1	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0007 a0011 a0030	a0001c0001 a0001c0002 a0004c0011 others(6): Show a0001c0001 a0001c0002 a0004c0011 a0006c0006 a0006c0032 a0007c0018 a0011c0049 a0011c0060 a0030c0037	a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0013 a0004c0011t0001 a0004c0011t0002 a0006c0006t0008 a0006c0032t0003 a0007c0018t0001 a0011c0049t0001 a0011c0060t0003 a0030c0037t0005	a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0016g0038 others(13): Show a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0016g0038 a0001c0002t0001g0051 a0001c0002t0001g0058 a0001c0002t0001g0104 a0001c0002t0002g0056 a0001c0002t0013g0097 a0004c0011t0001g0034 a0004c0011t0002g0035 a0006c0006t0008g0031 a0006c0032t0003g0077 a0007c0018t0001g0068 a0011c0049t0001g0073 a0011c0060t0003g0072 a0030c0037t0005g0082	16	126	0.1270	18	c.407 others(37): Show c.4071+2948_4071+2965dupATATATATATATATATAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32483146	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG03130.hp1 HG02055.hp1 HG02451.hp2 HG03130.hp1	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0024 a0003c0008 a0010c0051 a0002c0024 a0003c0008 a0010c0051	a0002c0024t0011 a0003c0008t0015 a0010c0051t0011 a0002c0024t0011 a0003c0008t0015 a0010c0051t0011	a0002c0024t0011g0016 a0003c0008t0015g0123 a0010c0051t0011g0121 a0002c0024t0011g0016 a0003c0008t0015g0123 a0010c0051t0011g0121	3	126	0.0238	18	c.280 others(37): Show c.2803+1755_2803+1772dupATATATATATATATATAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18959.hp1 NA18962.hp1 others(2): Show HG02572.hp1 NA18959.hp1 NA18962.hp1 NA18989.hp1 NA19004.hp1	a0001 a0027 a0030 a0001 a0027 a0030	a0001c0001 a0001c0002 a0027c0058 others(1): Show a0001c0001 a0001c0002 a0027c0058 a0030c0037	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0027c0058t0019 a0030c0037t0005	a0001c0001t0001g0084 a0001c0001t0002g0032 a0001c0002t0001g0115 others(2): Show a0001c0001t0001g0084 a0001c0001t0002g0032 a0001c0002t0001g0115 a0027c0058t0019g0116 a0030c0037t0005g0082	5	126	0.0397	18	c.280 others(37): Show c.2803+1754_2803+1755insGTATATATATATATATAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01106.hp1 HG00621.hp1 HG01106.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0015 a0001c0001 a0013c0015	a0001c0001t0001 a0013c0015t0001 a0001c0001t0001 a0013c0015t0001	a0001c0001t0001g0062 a0013c0015t0001g0102 a0001c0001t0001g0062 a0013c0015t0001g0102	2	126	0.0159	18	c.160 others(39): Show c.1602+10040_1602+10057dupTTTTTTTTTTTTTTTTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32649558	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0012 a0003c0008t0012	a0003c0008t0012g0117 a0003c0008t0012g0117	1	126	0.0079	18	c.961 others(35): Show c.961-4407_961-4406insTTTTTTTTTTTTTTTTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	9/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(11): Show TGGGGGGGGGGGGGGTTGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02922.hp2 HG02683.hp2 HG02922.hp2	a0017 a0019 a0017 a0019	a0017c0027 a0019c0033 a0017c0027 a0019c0033	a0017c0027t0001 a0019c0033t0001 a0017c0027t0001 a0019c0033t0001	a0017c0027t0001g0124 a0019c0033t0001g0089 a0017c0027t0001g0124 a0019c0033t0001g0089	2	126	0.0159	18	c.649 others(37): Show c.649+32215_649+32216insCCAACCCCCCCCCCCCCC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32870981	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19005.hp1 NA18948.hp1 NA19005.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0016 a0006c0006t0001 a0001c0001t0016 a0006c0006t0001	a0001c0001t0016g0038 a0006c0006t0001g0047 a0001c0001t0016g0038 a0006c0006t0001g0047	2	126	0.0159	18	c.94- others(35): Show c.94-21162_94-21161insCTTTTTTTTTTTTTTTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32948113	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18970.hp1 HG02257.hp1 NA18970.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0004 a0004c0011t0001 a0001c0001t0004 a0004c0011t0001	a0001c0001t0004g0101 a0004c0011t0001g0034 a0001c0001t0004g0101 a0004c0011t0001g0034	2	126	0.0159	18	c.93+ others(35): Show c.93+72008_93+72025dupGTGTGTGTGTGTGTGTGT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32964255	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18522.hp1 NA18943.hp1 HG02965.hp1 NA18522.hp1 NA18943.hp1	a0002 a0003 a0002 a0003	a0002c0020 a0002c0052 a0003c0014 a0002c0020 a0002c0052 a0003c0014	a0002c0020t0030 a0002c0052t0025 a0003c0014t0001 a0002c0020t0030 a0002c0052t0025 a0003c0014t0001	a0002c0020t0030g0125 a0002c0052t0025g0095 a0003c0014t0001g0059 a0002c0020t0030g0125 a0002c0052t0025g0095 a0003c0014t0001g0059	3	126	0.0238	18	c.93+ others(35): Show c.93+55866_93+55883dupTTTTTTTTTTTTTTTTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78						chrX	TogoVar
DMD_chrX_31114222_33216549	33005297	C C	CACACACA others(11): Show CACACACACACACACGCAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0031 a0031	a0031c0047 a0031c0047	a0031c0047t0005 a0031c0047t0005	a0031c0047t0005g0081 a0031c0047t0005g0081	1	126	0.0079	18	c.93+ others(35): Show c.93+14841_93+14842insATGCGTGTGTGTGTGTGT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78						chrX	TogoVar
DMD_chrX_31114222_33216549	33045315	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01258.hp1 HG01515.hp1 others(15): Show HG00609.hp1 HG01258.hp1 HG01515.hp1 HG02071.hp1 HG02486.hp1 HG02698.hp1 HG02738.hp1 HG03195.hp2 HG03486.hp2 HG03710.hp1 HG03942.hp1 NA18940.hp1 NA18952.hp1 NA18962.hp1 NA18971.hp1 NA18983.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0011 a0013 a0015 a0020 a0028	a0001c0001 a0001c0002 a0002c0009 others(8): Show a0001c0001 a0001c0002 a0002c0009 a0003c0003 a0005c0007 a0007c0019 a0011c0049 a0013c0015 a0015c0043 a0020c0034 a0028c0046	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0002c0009t0010 a0003c0003t0001 a0005c0007t0007 a0007c0019t0001 a0011c0049t0001 a0013c0015t0001 a0015c0043t0001 a0020c0034t0001 a0028c0046t0029	a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0008g0021 others(15): Show a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0008g0021 a0001c0002t0001g0025 a0001c0002t0001g0051 a0001c0002t0001g0074 a0001c0002t0001g0104 a0001c0002t0002g0056 a0002c0009t0010g0023 a0003c0003t0001g0027 a0003c0003t0001g0050 a0005c0007t0007g0063 a0007c0019t0001g0052 a0011c0049t0001g0073 a0013c0015t0001g0030 a0015c0043t0001g0112 a0020c0034t0001g0013 a0028c0046t0029g0126	18	126	0.1429	18	c.32- others(35): Show c.32-25133_32-25116dupGTGTGTGTGTGTGTGTGT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78						chrX	TogoVar
DMD_chrX_31114222_33216549	33051646	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02895.hp1 others(1): Show HG02055.hp1 HG02258.hp1 HG02895.hp1 HG03486.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0059 a0003c0003 a0003c0008 others(1): Show a0002c0059 a0003c0003 a0003c0008 a0005c0053	a0002c0059t0012 a0003c0003t0027 a0003c0008t0015 others(1): Show a0002c0059t0012 a0003c0003t0027 a0003c0008t0015 a0005c0053t0004	a0002c0059t0012g0055 a0003c0003t0027g0091 a0003c0008t0015g0123 others(1): Show a0002c0059t0012g0055 a0003c0003t0027g0091 a0003c0008t0015g0123 a0005c0053t0004g0103	4	126	0.0318	18	c.32- others(35): Show c.32-31464_32-31447dupAAAAAAAAAAAAAAAAAA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78						chrX	TogoVar
DMD_chrX_31114222_33216549	33070639	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0102 a0013c0015t0001g0102	1	126	0.0079	18	c.32- others(35): Show c.32-50457_32-50440dupGAGAGAGAGAGAGAGAGA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78						chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00642.hp1 others(15): Show HG00609.hp1 HG00621.hp1 HG00642.hp1 HG01192.hp1 HG02027.hp1 HG02055.hp1 HG02135.hp1 HG02683.hp1 HG02895.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp1 NA18522.hp1 NA18940.hp1 NA18966.hp1 NA18988.hp1 NA18994.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0011 a0022	a0001c0001 a0001c0002 a0002c0005 others(14): Show a0001c0001 a0001c0002 a0002c0005 a0002c0020 a0002c0059 a0003c0008 a0003c0062 a0004c0004 a0004c0011 a0004c0055 a0005c0007 a0005c0045 a0005c0053 a0005c0057 a0007c0019 a0011c0060 a0022c0025	a0001c0001t0001 a0001c0002t0001 a0002c0005t0002 others(14): Show a0001c0001t0001 a0001c0002t0001 a0002c0005t0002 a0002c0020t0030 a0002c0059t0012 a0003c0008t0015 a0003c0062t0001 a0004c0004t0001 a0004c0011t0002 a0004c0055t0001 a0005c0007t0007 a0005c0045t0018 a0005c0053t0004 a0005c0057t0001 a0007c0019t0001 a0011c0060t0003 a0022c0025t0006	a0001c0001t0001g0062 a0001c0002t0001g0088 a0002c0005t0002g0020 others(15): Show a0001c0001t0001g0062 a0001c0002t0001g0088 a0002c0005t0002g0020 a0002c0020t0030g0125 a0002c0059t0012g0055 a0003c0008t0015g0123 a0003c0062t0001g0078 a0004c0004t0001g0006 a0004c0004t0001g0064 a0004c0011t0002g0035 a0004c0055t0001g0007 a0005c0007t0007g0063 a0005c0045t0018g0118 a0005c0053t0004g0103 a0005c0057t0001g0109 a0007c0019t0001g0052 a0011c0060t0003g0072 a0022c0025t0006g0108	18	126	0.1429	18	c.32- others(35): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78						chrX	TogoVar
DMGDH_chr5_78992564_79074674	79050273	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0076 a0004c0006t0001g0076	1	372	0.0027	18	c.745 others(35): Show c.745+1013_745+1014insATATATATATATTTTTTT		DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	5/15						chr5	TogoVar
DMPK_chr19_45764717_45787490	45777553	G G	GGGACCCC others(11): Show GGGACCCCTTCGTCCACCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19058.hp1 NA19058.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0160 a0006c0018t0001g0160	1	416	0.0024	18	c.902 others(25): Show c.902_919dupTGGTGGACGAAGGGGTCC	p.Leu others(13): Show p.Leu301_Val306dup	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	8/15	1057/2799	919/1890	307/629			chr19	TogoVar
DMRT1_chr9_836697_974090	840722	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01358.hp2 HG02083.hp1 others(4): Show HG00597.hp2 HG01358.hp2 HG02083.hp1 HG02698.hp1 NA18952.hp1 NA18979.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006	a0002c0002t0003g0061 a0002c0002t0003g0068 a0002c0002t0003g0076 others(4): Show a0002c0002t0003g0061 a0002c0002t0003g0068 a0002c0002t0003g0076 a0002c0002t0005g0050 a0002c0002t0006g0055 a0002c0002t0006g0066 a0002c0002t0006g0067	7	306	0.0229	18	c.-11 others(29): Show c.-1117_-1116insGTGTGTGTGTGTGTGTGT		DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding					974		chr9	TogoVar
DMRT1_chr9_836697_974090	915745	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0130 a0001c0001t0004g0130	1	306	0.0033	18	c.823 others(35): Show c.823-1017_823-1016insATATTTTTTTTTTTTTTT		DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT2_chr9_1045357_1062552	1060726	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01109.hp2 others(5): Show HG00544.hp1 HG00609.hp2 HG01109.hp2 HG01891.hp1 HG02056.hp1 HG02257.hp1 HG02451.hp2 HG04204.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0005 a0002c0001 a0003c0004 others(1): Show a0001c0005 a0002c0001 a0003c0004 a0008c0011	a0001c0005t0004 a0002c0001t0001 a0003c0004t0004 others(1): Show a0001c0005t0004 a0002c0001t0001 a0003c0004t0004 a0008c0011t0016	a0001c0005t0004g0039 a0002c0001t0001g0001 a0002c0001t0001g0027 others(2): Show a0001c0005t0004g0039 a0002c0001t0001g0001 a0002c0001t0001g0027 a0003c0004t0004g0006 a0008c0011t0016g0107	8	488	0.0164	18	c.34 others(29): Show c.3453_*3454insTTTTTTTTTTTTTTTTTT		DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding					3175		chr9	TogoVar
DMRTB1_chr1_53454399_53472488	53458073	C C	CAGAGAGA others(11): Show CAGAGAGACAGAGAGACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03540.hp2 HG03453.hp1 HG03540.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0015 a0004c0006t0001g0015	2	394	0.0051	18	c.-13 others(29): Show c.-1381_-1380insAGAGAGACAGAGAGACAG		DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding					1325		chr1	TogoVar
DMRTB1_chr1_53454399_53472488	53458073	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	394	0.0025	18	c.-13 others(29): Show c.-1381_-1380insAGAGAGAGAGAGAGAGAG		DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding					1325		chr1	TogoVar
DMRTC1B_chrX_72771890_72853803	72776950	T T	TTCCTCCT others(11): Show TTCCTCCTCCTCCTCCTCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02056.hp1 NA19043.hp2 HG02056.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0009 a0001c0001t0010	a0001c0001t0009g0011 a0001c0001t0010g0026 a0001c0001t0009g0011 a0001c0001t0010g0026	2	26	0.0769	18	c.-35 others(27): Show c.-358_-341dupCCTCCTCCTCCTCCTCCT		DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/7				68133	INFO_REALIGN_3_PRIME	chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72943799	G G	GAGCAGGA others(11): Show GAGCAGGAGGAGGAGGAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0005 a0001c0001t0013g0005	1	54	0.0185	18	c.-32 others(27): Show c.-320_-319insGCTCCTCCTCCTCCTGCT		DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/7				68106		chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72943820	C C	CAGGAGGA others(11): Show CAGGAGGAGGAGGAGGAGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0006 a0001c0001t0014g0006	1	54	0.0185	18	c.-34 others(27): Show c.-341_-340insCCTCCTCCTCCTCCTCCT		DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/7				68127		chrX	TogoVar
DMTN_chr8_22051814_22087525	22056555	G G	GGTGCGTG others(11): Show GGTGCGTGTGGGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01099.hp1 others(30): Show HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01243.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0003t0002 a0002c0002t0006	a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0038 others(27): Show a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0003g0037 a0001c0001t0004g0011 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0011g0036 a0001c0001t0011g0058 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0031 a0002c0002t0006g0010 a0002c0002t0006g0047 a0002c0002t0006g0048 a0002c0002t0006g0049	33	324	0.1019	18	c.-75 others(27): Show c.-753_-752insGTGCGTGTGGGTGTGTGT		DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding					258		chr8	TogoVar
DMTN_chr8_22051814_22087525	22079265	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0030 a0001c0003t0002g0030	1	324	0.0031	18	c.836 others(33): Show c.836-912_836-911insTATATATATATATATATA		DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079269	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02630.hp2 HG01175.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0080 a0001c0001t0003g0085	2	324	0.0062	18	c.836 others(33): Show c.836-908_836-907insTATATATATATATATATA		DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079273	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02970.hp2 HG02109.hp1 HG02280.hp1 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0010 a0002c0002t0006g0047 a0002c0002t0006g0010 a0002c0002t0006g0047	3	324	0.0093	18	c.836 others(33): Show c.836-904_836-903insTATATATATATATATATA		DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAAATA others(11): Show AATAAATAAATAAATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	324	0.0031	18	c.836 others(33): Show c.836-900_836-899insAATAAATAAATATATATA		DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAAATA others(11): Show AATAAATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02683.hp2 HG01496.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0281 a0001c0001t0001g0242 a0001c0001t0001g0281	2	324	0.0062	18	c.836 others(33): Show c.836-900_836-899insAATAAATATATATATATA		DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAAATA others(11): Show AATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02155.hp1 HG02257.hp1 others(4): Show HG01175.hp1 HG02155.hp1 HG02257.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0181 others(4): Show a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0215 a0001c0001t0001g0228	7	324	0.0216	18	c.836 others(33): Show c.836-900_836-899insAATATATATATATATATA		DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMWD_chr19_45777947_45797845	45795880	T T	TCTCCTCG others(11): Show TCTCCTCGCCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(132): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01255.hp2 HG01346.hp2 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02970.hp2 HG03239.hp1 HG03654.hp2 HG03688.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0016 others(1): Show a0001c0001 a0001c0005 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0005t0001 a0001c0005t0005 a0001c0016t0001 a0001c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0005g0014 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0079 a0001c0001t0005g0102 a0001c0001t0009g0022 a0001c0001t0009g0078 a0001c0001t0009g0097 a0001c0001t0013g0034 a0001c0001t0016g0095 a0001c0001t0018g0111 a0001c0005t0001g0008 a0001c0005t0001g0077 a0001c0005t0005g0098 a0001c0016t0001g0101 a0001c0017t0001g0099	135	440	0.3068	18	c.-31 others(29): Show c.-3142_-3125dupGAGGAGGAGGGCGAGGAG		DMWD	ENSG00000185800.12	transcript	ENST00000270223.7	protein_coding					3036		chr19	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG00597.hp2 HG00673.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0078 a0001c0008t0001g0080 a0001c0008t0001g0078 a0001c0008t0001g0080	2	238	0.0084	18	c.88- others(33): Show c.88-8686_88-8685insATATATATATATATATTT		DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43					INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02615.hp1 HG02015.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0047 a0001c0008 a0002c0047	a0001c0008t0001 a0002c0047t0001 a0001c0008t0001 a0002c0047t0001	a0001c0008t0001g0077 a0002c0047t0001g0065 a0001c0008t0001g0077 a0002c0047t0001g0065	2	238	0.0084	18	c.88- others(33): Show c.88-8686_88-8685insATATATATATATATTTTT		DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43					INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03834.hp1 NA18944.hp1 others(2): Show HG00280.hp2 HG03834.hp1 NA18944.hp1 NA18962.hp1 NA19043.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0031 a0002c0003 a0006c0011 a0001c0031 a0002c0003 a0006c0011	a0001c0031t0001 a0002c0003t0001 a0002c0003t0006 others(1): Show a0001c0031t0001 a0002c0003t0001 a0002c0003t0006 a0006c0011t0004	a0001c0031t0001g0232 a0002c0003t0001g0091 a0002c0003t0006g0060 others(2): Show a0001c0031t0001g0232 a0002c0003t0001g0091 a0002c0003t0006g0060 a0002c0003t0006g0061 a0006c0011t0004g0108	5	238	0.0210	18	c.668 others(37): Show c.6682-1480_6682-1463dupTATATATATATATATATA		DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43					INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19240.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0005 a0001c0001t0004 a0001c0002t0005	a0001c0001t0004g0040 a0001c0002t0005g0037 a0001c0001t0004g0040 a0001c0002t0005g0037	2	238	0.0084	18	c.668 others(37): Show c.6682-1484_6682-1483insGTATATATATATATATAT		DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43					INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119202887	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0007 a0009c0010t0007	a0009c0010t0007g0002 a0009c0010t0007g0003 a0009c0010t0007g0002 a0009c0010t0007g0003	2	238	0.0084	18	c.774 others(35): Show c.7746-415_7746-414insTTATATATATATATATAT		DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	32/43					INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0321 a0004c0005t0001g0321	1	346	0.0029	18	c.299 others(35): Show c.2992+482_2992+499dupCACACACACACACACACA		DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43						chr15	TogoVar
DMXL2_chr15_51442791_51627771	51512363	C C	CAACATTT others(11): Show CAACATTTTTTAGACAACT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	346	0.0029	18	c.264 others(37): Show c.2644+2061_2644+2078dupAGTTGTCTAAAAAATGTT		DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	15/43						chr15	TogoVar
DMXL2_chr15_51442791_51627771	51576183	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG02717.hp2 NA18942.hp1 others(2): Show HG01167.hp1 HG02717.hp2 NA18942.hp1 NA18977.hp1 NA19006.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0005 a0005c0015 a0002c0002 a0004c0005 a0005c0015	a0002c0002t0001 a0004c0005t0001 a0005c0015t0004 a0002c0002t0001 a0004c0005t0001 a0005c0015t0004	a0002c0002t0001g0225 a0004c0005t0001g0320 a0004c0005t0001g0324 others(2): Show a0002c0002t0001g0225 a0004c0005t0001g0320 a0004c0005t0001g0324 a0004c0005t0001g0328 a0005c0015t0004g0133	5	346	0.0145	18	c.88- others(28): Show c.88-20_88-3dupTTTTTTTTTTTTTTTTTT		DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43						chr15	TogoVar
DNA2_chr10_68409064_68476973	68427650	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01952.hp1 HG01993.hp2 others(13): Show HG01361.hp2 HG01952.hp1 HG01993.hp2 HG02257.hp2 HG02293.hp1 HG03239.hp1 HG03654.hp2 HG03927.hp1 NA18948.hp1 NA18956.hp2 NA18961.hp2 NA18973.hp2 NA18977.hp2 NA18999.hp2 NA19007.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0009 a0001c0004t0004 a0001c0003t0003 a0001c0003t0009 a0001c0004t0004	a0001c0003t0003g0001 a0001c0003t0003g0046 a0001c0003t0003g0054 others(12): Show a0001c0003t0003g0001 a0001c0003t0003g0046 a0001c0003t0003g0054 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0068 a0001c0003t0003g0075 a0001c0003t0003g0078 a0001c0003t0003g0083 a0001c0003t0003g0086 a0001c0003t0009g0080 a0001c0004t0004g0040	16	326	0.0491	18	c.220 others(37): Show c.2208+2768_2208+2785dupGTGTGTGTGTGTGTGTGT		DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	14/20						chr10	TogoVar
DNAAF11_chr8_132565416_132680545	132593332	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02280.hp2 HG06807.hp2 others(3): Show HG00280.hp1 HG02280.hp2 HG06807.hp2 NA18939.hp2 NA18967.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0001g0241 a0002c0002t0003g0256	6	276	0.0217	18	c.114 others(37): Show c.1141-9571_1141-9554dupATATATATATATATATAT		DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	10/11						chr8	TogoVar

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