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
DLGAP1_chr18_3491032_4460307	4265627	T T	TTCCTTCC others(18): Show TTCCTTCCTTCCCTCCCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	80	0.0125	25	c.-26 others(48): Show c.-266-114341_-266-114340insGGGGAGGGAGGGAGGGAAGGAA GGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1236191	T T	TCGTGTCT others(18): Show TCGTGTCTAGTTCTCTCACATGGCGC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03516.hp1 HG01361.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0023 a0001c0011t0015 a0001c0002t0023 a0001c0011t0015	a0001c0002t0023g0005 a0001c0011t0015g0002 a0001c0002t0023g0005 a0001c0011t0015g0002	2	40	0.0500	25	c.74- others(42): Show c.74-22636_74-22612dupGCCGTGTCTAGTTCTCTCACATGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1238895	G G	GCCGTGTC others(18): Show GCCGTGTCTAGTTCTCTCACATGGCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	25	c.74- others(42): Show c.74-19939_74-19915dupCACATGGCACCGTGTCTAGTTCTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1239341	G G	GGCCGTGT others(18): Show GGCCGTGTCTAGTTCTCTCACATGGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	25	c.74- others(42): Show c.74-19486_74-19485insTGCCGTGTCTAGTTCTCTCACATGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP4_chr20_36301339_36533633	36525216	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	144	0.0069	25	c.260 others(42): Show c.2605-621_2605-597dupAAAAAAAAAAAAAAAAAAAAAAAAA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02155.hp2 HG04115.hp1 others(5): Show HG00639.hp1 HG02155.hp2 HG04115.hp1 HG04115.hp2 NA18975.hp2 NA19006.hp1 NA19075.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0005 a0001c0011t0001 a0001c0001t0001 a0001c0001t0005 a0001c0011t0001	a0001c0001t0001g0229 a0001c0001t0001g0252 a0001c0001t0001g0254 others(5): Show a0001c0001t0001g0229 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0005g0253 a0001c0011t0001g0251	8	324	0.0247	25	c.327 others(42): Show c.327-2548_327-2547insAAAAAAAAAAAAAAAAAAAAAAAAA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31293214	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTAGTCTGGTTTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0012 a0002c0059t0012	a0002c0059t0012g0055 a0002c0059t0012g0055	1	126	0.0079	25	c.922 others(46): Show c.9224+30383_9224+30384insTAAACCAGACTACACACACACACA C	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31511235	T T	TATATAAT others(18): Show TATATAATATAATATAATATAATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01433.hp1 others(12): Show HG00642.hp1 HG01109.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp1 HG02293.hp2 HG02735.hp1 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG04204.hp1 NA18990.hp1 NA18995.hp1 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0015 a0033	a0001c0022 a0002c0009 a0002c0016 others(10): Show a0001c0022 a0002c0009 a0002c0016 a0002c0059 a0003c0014 a0004c0004 a0005c0007 a0005c0045 a0006c0006 a0010c0051 a0015c0043 a0015c0056 a0033c0050	a0001c0022t0001 a0002c0009t0001 a0002c0016t0009 others(10): Show a0001c0022t0001 a0002c0009t0001 a0002c0016t0009 a0002c0059t0012 a0003c0014t0010 a0004c0004t0001 a0005c0007t0001 a0005c0045t0018 a0006c0006t0008 a0010c0051t0011 a0015c0043t0001 a0015c0056t0021 a0033c0050t0001	a0001c0022t0001g0036 a0002c0009t0001g0065 a0002c0016t0009g0014 others(12): Show a0001c0022t0001g0036 a0002c0009t0001g0065 a0002c0016t0009g0014 a0002c0059t0012g0055 a0003c0014t0010g0015 a0004c0004t0001g0041 a0004c0004t0001g0064 a0004c0004t0001g0083 a0005c0007t0001g0079 a0005c0045t0018g0118 a0006c0006t0008g0031 a0010c0051t0011g0121 a0015c0043t0001g0112 a0015c0056t0021g0045 a0033c0050t0001g0119	15	126	0.1191	25	c.821 others(44): Show c.8218-3783_8218-3782insTATATTATATTATATTATATTATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31843843	G G	GATTGTAT others(18): Show GATTGTATTGTATTGTATTGTATTAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 NA19043.hp1 HG03098.hp1 HG03486.hp2 NA19043.hp1	a0002 a0010 a0028 a0002 a0010 a0028	a0002c0020 a0010c0031 a0028c0046 a0002c0020 a0010c0031 a0028c0046	a0002c0020t0028 a0010c0031t0001 a0028c0046t0029 a0002c0020t0028 a0010c0031t0001 a0028c0046t0029	a0002c0020t0028g0010 a0010c0031t0001g0096 a0028c0046t0029g0126 a0002c0020t0028g0010 a0010c0031t0001g0096 a0028c0046t0029g0126	3	126	0.0238	25	c.709 others(44): Show c.7099-7025_7099-7024insATAATACAATACAATACAATACAAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32050974	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0009 a0002c0016t0009	a0002c0016t0009g0014 a0002c0016t0009g0014	1	126	0.0079	25	c.643 others(46): Show c.6439-82461_6439-82460insAAAAAAAAAAAAAAAAAAAAAAAA A	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32452439	G G	GGGAAAGG others(18): Show GGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0027 a0003c0003t0027	a0003c0003t0027g0091 a0003c0003t0027g0091	1	126	0.0079	25	c.360 others(44): Show c.3603+2198_3603+2222dupTTTCCTTTCCTTTCCTTTCCTTTCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(18): Show TGGGGGGGGGGGGGGGGGGGGTTGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18955.hp1 HG03130.hp1 NA18955.hp1	a0004 a0010 a0004 a0010	a0004c0011 a0010c0051 a0004c0011 a0010c0051	a0004c0011t0001 a0010c0051t0011 a0004c0011t0001 a0010c0051t0011	a0004c0011t0001g0085 a0010c0051t0011g0121 a0004c0011t0001g0085 a0010c0051t0011g0121	2	126	0.0159	25	c.649 others(44): Show c.649+32215_649+32216insCCCAACCCCCCCCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32969027	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0001 a0023c0041t0001	a0023c0041t0001g0046 a0023c0041t0001g0046	1	126	0.0079	25	c.93+ others(42): Show c.93+51087_93+51111dupTTTTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMGDH_chr5_78992564_79074674	79003968	A A	AAATAAAT others(18): Show AAATAAATAAATAAATAAATAAATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	372	0.0027	25	c.238 others(44): Show c.2385+1304_2385+1305insATATTTATTTATTTATTTATTTATT	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	15/15			chr5	TogoVar
DMP1_chr4_87645280_87669357	87653407	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0095 a0002c0001t0001g0095	1	430	0.0023	25	c.-22 others(42): Show c.-22+3024_-21-3040dupTATATATATATATATATATATATAT	DMP1	ENSG00000152592.15	transcript	ENST00000339673.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
DMRT1_chr9_836697_974090	842230	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0305 a0001c0001t0007g0305	1	306	0.0033	25	c.354 others(38): Show c.354+61_354+62insTTTTTTTTTTTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRTC1B_chrX_72771890_72853803	72840183	A A	AAAAGCAA others(18): Show AAAAGCAAAGCAAAGCAAAGCAAAGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03492.hp1 HG02056.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0005 a0001c0001t0010g0026 a0001c0001t0005g0005 a0001c0001t0010g0026	2	26	0.0769	25	c.-94 others(42): Show c.-94-4820_-94-4796dupGCAAAGCAAAGCAAAGCAAAGCAAA	DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
DMRTC1B_chrX_72771890_72853803	72841439	A A	AGGAAGGG others(18): Show AGGAAGGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	26	0.0385	25	c.-94 others(42): Show c.-94-3593_-94-3569dupGGGAAGGGAAGGGAAGGGAAGGGAA	DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72880587	G G	GTTTGCTT others(18): Show GTTTGCTTTGCTTTGCTTTGCTTTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02129.hp2 NA18950.hp2 others(2): Show HG00140.hp2 HG02129.hp2 NA18950.hp2 NA19058.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017	a0001c0001t0002g0029 a0001c0001t0005g0004 a0001c0001t0013g0005 others(2): Show a0001c0001t0002g0029 a0001c0001t0005g0004 a0001c0001t0013g0005 a0001c0001t0016g0019 a0001c0001t0017g0018	5	54	0.0926	25	c.-94 others(42): Show c.-94-4824_-94-4800dupGCAAAGCAAAGCAAAGCAAAGCAAA	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/6			chrX	TogoVar
DMTN_chr8_22051814_22087525	22079301	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19082.hp1 HG01074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0203 a0001c0001t0001g0169 a0001c0001t0001g0203	2	324	0.0062	25	c.836 others(40): Show c.836-879_836-878insATATATATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMXL1_chr5_119066087_119254127	119123370	A A	AGAGGGAG others(18): Show AGAGGGAGAGGAGGGAGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0085 a0002c0003t0004g0085	1	238	0.0042	25	c.110 others(44): Show c.1102+2241_1102+2242insAGGGAGAGGGAGGGGGAGGGAGAGG	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTCT others(18): Show CTCTCTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01517.hp2 HG01099.hp1 HG01517.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0003 a0001c0004 a0004c0003	a0001c0004t0001 a0004c0003t0002 a0001c0004t0001 a0004c0003t0002	a0001c0004t0001g0170 a0004c0003t0002g0171 a0001c0004t0001g0170 a0004c0003t0002g0171	2	456	0.0044	25	c.125 others(40): Show c.125-410_125-409insCTCTCTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(18): Show CTCTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02809.hp2 HG03139.hp1 others(2): Show HG01516.hp2 HG02809.hp2 HG03139.hp1 NA18982.hp1 NA19062.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0025 a0001c0001 a0001c0004 a0003c0025	a0001c0001t0002 a0001c0004t0001 a0003c0025t0001 a0001c0001t0002 a0001c0004t0001 a0003c0025t0001	a0001c0001t0002g0200 a0001c0001t0002g0427 a0001c0004t0001g0023 others(2): Show a0001c0001t0002g0200 a0001c0001t0002g0427 a0001c0004t0001g0023 a0001c0004t0001g0201 a0003c0025t0001g0428	5	456	0.0110	25	c.125 others(40): Show c.125-410_125-409insCTCTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTTTTT others(18): Show CTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19005.hp1 HG06807.hp1 NA19005.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0003c0007t0002 a0001c0001t0002 a0003c0007t0002	a0001c0001t0002g0207 a0003c0007t0002g0397 a0001c0001t0002g0207 a0003c0007t0002g0397	2	456	0.0044	25	c.125 others(40): Show c.125-410_125-409insCTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp2 others(48): Show HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00673.hp1 HG01106.hp2 HG01123.hp2 HG01358.hp2 HG01884.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02258.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG02976.hp1 HG03209.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG06807.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18965.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18986.hp2 NA18989.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19079.hp1 NA19082.hp2 NA19088.hp2 NA19240.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0014 a0017 a0020 a0021	a0001c0001 a0001c0004 a0002c0002 others(10): Show a0001c0001 a0001c0004 a0002c0002 a0003c0005 a0003c0007 a0006c0006 a0007c0010 a0008c0011 a0009c0012 a0014c0018 a0017c0021 a0020c0026 a0021c0027	a0001c0001t0002 a0001c0004t0001 a0001c0004t0003 others(11): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0003 a0002c0002t0001 a0003c0005t0001 a0003c0007t0002 a0006c0006t0001 a0007c0010t0002 a0008c0011t0001 a0009c0012t0001 a0014c0018t0001 a0017c0021t0002 a0020c0026t0001 a0021c0027t0001	a0001c0001t0002g0061 a0001c0001t0002g0089 a0001c0001t0002g0338 others(47): Show a0001c0001t0002g0061 a0001c0001t0002g0089 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0355 a0001c0001t0002g0359 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0004t0001g0360 a0001c0004t0003g0357 a0002c0002t0001g0020 a0002c0002t0001g0034 a0002c0002t0001g0339 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0003c0005t0001g0051 a0003c0005t0001g0076 a0003c0005t0001g0079 a0003c0005t0001g0081 a0003c0005t0001g0085 a0003c0005t0001g0086 a0003c0007t0002g0063 a0003c0007t0002g0078 a0003c0007t0002g0354 a0006c0006t0001g0157 a0006c0006t0001g0158 a0007c0010t0002g0358 a0008c0011t0001g0080 a0008c0011t0001g0083 a0008c0011t0001g0084 a0008c0011t0001g0088 a0008c0011t0001g0398 a0009c0012t0001g0022 a0009c0012t0001g0167 a0009c0012t0001g0352 a0009c0012t0001g0353 a0014c0018t0001g0060 a0014c0018t0001g0082 a0017c0021t0002g0356 a0020c0026t0001g0348 a0021c0027t0001g0077 a0021c0027t0001g0087	51	456	0.1118	25	c.125 others(40): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55170872	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	398	0.0025	25	c.-43 others(36): Show c.-4355_-4354insAGAGAGAGAGAGAGAGAGAGAGAGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4260		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170873	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG03471.hp1 HG03540.hp1 HG01496.hp2 HG03471.hp1 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0125 a0003c0002t0001g0002 a0003c0002t0001g0006 a0001c0001t0001g0125 a0003c0002t0001g0002 a0003c0002t0001g0006	3	398	0.0075	25	c.-43 others(36): Show c.-4356_-4355insGAGAGAGAGAGAGAGAGAGAGAGAG	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4261		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55433813	A A	ATATATAT others(18): Show ATATATATTATATATATTACATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0301 a0004c0005t0003g0301	1	338	0.0030	25	c.104 others(44): Show c.1047+1067_1047+1091dupATATATGTAATATATATAATATATA	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	8/9			chr15	TogoVar
DNAAF4_chr15_55425308_55513234	55433950	A A	ATATTATA others(18): Show ATATTATATATAATATATTATAATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02145.hp1 HG02280.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0124 a0004c0005t0001g0212 a0004c0005t0001g0124 a0004c0005t0001g0212	2	338	0.0059	25	c.104 others(42): Show c.1047+954_1047+955insATATTATAATATATTATATATAATA	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	8/9			chr15	TogoVar
DNAAF4_chr15_55425308_55513234	55433950	A A	ATATTTTA others(18): Show ATATTTTATATAATATATTATAATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(21): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01891.hp1 HG01891.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 NA18522.hp1 NA20805.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0004c0007 a0005c0004 a0004c0005 a0004c0007 a0005c0004	a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 others(4): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0007t0003 a0005c0004t0003	a0004c0005t0001g0296 a0004c0005t0002g0274 a0004c0005t0002g0275 others(21): Show a0004c0005t0001g0296 a0004c0005t0002g0274 a0004c0005t0002g0275 a0004c0005t0002g0276 a0004c0005t0002g0277 a0004c0005t0002g0278 a0004c0005t0002g0279 a0004c0005t0002g0280 a0004c0005t0002g0281 a0004c0005t0002g0282 a0004c0005t0003g0298 a0004c0005t0003g0300 a0004c0005t0003g0301 a0004c0005t0003g0302 a0004c0005t0003g0303 a0004c0005t0005g0286 a0004c0005t0005g0287 a0004c0005t0005g0288 a0004c0005t0005g0289 a0004c0005t0007g0285 a0004c0005t0007g0290 a0004c0007t0003g0299 a0005c0004t0003g0283 a0005c0004t0003g0284	24	338	0.0710	25	c.104 others(42): Show c.1047+954_1047+955insATATTATAATATATTATATAAAATA	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	8/9			chr15	TogoVar
DNAAF9_chr20_3244306_3412669	3328187	T T	TTTTTTTT others(18): Show TTTTTTTTTTTATTTTGTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0005 a0010c0019t0005	a0010c0019t0005g0020 a0010c0019t0005g0020	1	362	0.0028	25	c.110 others(44): Show c.1101-1904_1101-1903insCAAAACAAACAAAATAAAAAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	12/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3374879	A A	AAGTCCCC others(18): Show AAGTCCCCATACTTAATTTCTGCTTG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0005 a0011c0023t0005	a0011c0023t0005g0329 a0011c0023t0005g0329	1	362	0.0028	25	c.505 others(40): Show c.505+150_505+151insCAAGCAGAAATTAAGTATGGGGACT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	5/36			chr20	TogoVar
DNAH10_chr12_123757301_123940714	123782329	G G	GCCTCCCC others(18): Show GCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA21309.hp2 HG02818.hp1 NA21309.hp2	a0056 a0057 a0056 a0057	a0056c0072 a0057c0073 a0056c0072 a0057c0073	a0056c0072t0001 a0057c0073t0002 a0056c0072t0001 a0057c0073t0002	a0056c0072t0001g0122 a0057c0073t0002g0123 a0056c0072t0001g0122 a0057c0073t0002g0123	2	170	0.0118	25	c.842 others(40): Show c.842-774_842-750dupCCCCTCCCCTCCCCTCCCCTCCCCT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	6/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21612554	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0012 a0012	a0012c0169 a0012c0169	a0012c0169t0008 a0012c0169t0008	a0012c0169t0008g0116 a0012c0169t0008g0116	1	298	0.0034	25	c.385 others(44): Show c.3853-2538_3853-2537insAAAAAAAAAAAAAAAAAAAAAAAAA	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	20/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18964.hp2 NA18985.hp2 HG02809.hp1 NA18964.hp2 NA18985.hp2	a0092 a0132 a0168 a0092 a0132 a0168	a0092c0148 a0132c0073 a0168c0183 a0092c0148 a0132c0073 a0168c0183	a0092c0148t0003 a0132c0073t0010 a0168c0183t0004 a0092c0148t0003 a0132c0073t0010 a0168c0183t0004	a0092c0148t0003g0105 a0132c0073t0010g0292 a0168c0183t0004g0211 a0092c0148t0003g0105 a0132c0073t0010g0292 a0168c0183t0004g0211	3	298	0.0101	25	c.100 others(44): Show c.10026+466_10026+467insCTTTCTTTCTTTCTTTCTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789812	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0080 a0080	a0080c0164 a0080c0164	a0080c0164t0005 a0080c0164t0005	a0080c0164t0005g0013 a0080c0164t0005g0013	1	298	0.0034	25	c.100 others(44): Show c.10026+481_10026+482insTTCTTTCTTTCTTTTTTCTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(18): Show ATATATATATATATGTATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01515.hp2 HG02083.hp2 others(2): Show HG00544.hp1 HG01515.hp2 HG02083.hp2 NA18961.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0213 a0002c0002t0001g0006 a0002c0002t0001g0126 others(2): Show a0001c0001t0001g0213 a0002c0002t0001g0006 a0002c0002t0001g0126 a0002c0002t0001g0135 a0002c0002t0001g0151	5	266	0.0188	25	c.111 others(44): Show c.11190-629_11190-628insAAAAAAAAATACATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(18): Show ATATATATATATGTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02148.hp2 HG02293.hp1 others(5): Show HG01981.hp2 HG02148.hp2 HG02293.hp1 HG02293.hp2 NA18944.hp1 NA19001.hp1 NA19062.hp2 NA20300.hp2	a0002 a0005 a0010 others(1): Show a0002 a0005 a0010 a0055	a0002c0002 a0005c0005 a0010c0092 others(1): Show a0002c0002 a0005c0005 a0010c0092 a0055c0084	a0002c0002t0001 a0005c0005t0001 a0010c0092t0001 others(1): Show a0002c0002t0001 a0005c0005t0001 a0010c0092t0001 a0055c0084t0001	a0002c0002t0001g0120 a0002c0002t0001g0127 a0002c0002t0001g0129 others(5): Show a0002c0002t0001g0120 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0144 a0005c0005t0001g0240 a0010c0092t0001g0202 a0055c0084t0001g0189	8	266	0.0301	25	c.111 others(44): Show c.11190-629_11190-628insAAAAAAAAAAATACATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57302567	A A	ATATATAT others(18): Show ATATATATATGTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01934.hp2 HG02129.hp2 others(1): Show HG01256.hp1 HG01934.hp2 HG02129.hp2 NA18999.hp2	a0001 a0010 a0022 a0001 a0010 a0022	a0001c0001 a0001c0085 a0010c0015 others(1): Show a0001c0001 a0001c0085 a0010c0015 a0022c0028	a0001c0001t0001 a0001c0085t0001 a0010c0015t0001 others(1): Show a0001c0001t0001 a0001c0085t0001 a0010c0015t0001 a0022c0028t0001	a0001c0001t0001g0223 a0001c0085t0001g0222 a0010c0015t0001g0243 others(1): Show a0001c0001t0001g0223 a0001c0085t0001g0222 a0010c0015t0001g0243 a0022c0028t0001g0250	4	266	0.0150	25	c.111 others(44): Show c.11190-629_11190-628insAAAAAAAAAAAAATACATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18990.hp2 HG03927.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0206 a0001c0001t0001g0188 a0001c0001t0001g0206	2	266	0.0075	25	c.730 others(44): Show c.7305+1447_7305+1448insATATATATATATATATATATTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18950.hp2 NA18973.hp2 others(1): Show HG04115.hp1 NA18950.hp2 NA18973.hp2 NA19005.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0005c0005 a0009c0024 a0001c0001 a0005c0005 a0009c0024	a0001c0001t0001 a0005c0005t0001 a0009c0024t0001 a0001c0001t0001 a0005c0005t0001 a0009c0024t0001	a0001c0001t0001g0226 a0005c0005t0001g0191 a0005c0005t0001g0228 others(1): Show a0001c0001t0001g0226 a0005c0005t0001g0191 a0005c0005t0001g0228 a0009c0024t0001g0183	4	266	0.0150	25	c.133 others(44): Show c.1335+1673_1335+1674insATATATATATATATTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0010 a0011c0018t0001g0010	1	266	0.0038	25	c.133 others(44): Show c.1335+1673_1335+1674insATATATATATATATATATATATATT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH14_chr1_224924675_225404286	225034515	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0066 a0013c0014t0001g0066	1	240	0.0042	25	c.135 others(44): Show c.1359-4179_1359-4178insGTGTGTGTGTGTGTGTGTGTGTGTG	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	11/85			chr1	TogoVar
DNAH14_chr1_224924675_225404286	225103928	T T	TTGAATAG others(18): Show TTGAATAGGAGTGGTGAGAGAGGGCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00733.hp1 others(51): Show HG00323.hp1 HG00639.hp1 HG00733.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01496.hp2 HG01975.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18964.hp1 NA18974.hp1 NA18975.hp1 NA18987.hp1 NA18991.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19043.hp2 NA19060.hp1 NA19070.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp1 NA20905.hp1	a0002 a0004 a0012 others(20): Show a0002 a0004 a0012 a0013 a0022 a0023 a0027 a0041 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0108 a0109	a0002c0003 a0002c0025 a0002c0073 others(24): Show a0002c0003 a0002c0025 a0002c0073 a0004c0004 a0004c0083 a0012c0024 a0012c0074 a0013c0014 a0022c0023 a0023c0022 a0027c0026 a0041c0082 a0043c0075 a0044c0077 a0045c0076 a0046c0063 a0047c0072 a0048c0071 a0049c0070 a0050c0069 a0051c0066 a0052c0065 a0053c0064 a0054c0067 a0055c0068 a0108c0045 a0109c0044	a0002c0003t0001 a0002c0003t0002 a0002c0025t0002 others(25): Show a0002c0003t0001 a0002c0003t0002 a0002c0025t0002 a0002c0073t0001 a0004c0004t0001 a0004c0083t0001 a0012c0024t0001 a0012c0074t0001 a0013c0014t0001 a0022c0023t0001 a0023c0022t0001 a0027c0026t0001 a0041c0082t0001 a0043c0075t0001 a0044c0077t0001 a0045c0076t0001 a0046c0063t0001 a0047c0072t0001 a0048c0071t0001 a0049c0070t0001 a0050c0069t0001 a0051c0066t0001 a0052c0065t0001 a0053c0064t0001 a0054c0067t0001 a0055c0068t0001 a0108c0045t0001 a0109c0044t0001	a0002c0003t0001g0041 a0002c0003t0001g0048 a0002c0003t0001g0052 others(51): Show a0002c0003t0001g0041 a0002c0003t0001g0048 a0002c0003t0001g0052 a0002c0003t0001g0056 a0002c0003t0001g0059 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0068 a0002c0003t0001g0073 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0084 a0002c0003t0002g0072 a0002c0025t0002g0042 a0002c0025t0002g0043 a0002c0073t0001g0069 a0004c0004t0001g0035 a0004c0004t0001g0039 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0070 a0004c0004t0001g0074 a0004c0004t0001g0078 a0004c0083t0001g0023 a0012c0024t0001g0060 a0012c0024t0001g0079 a0012c0074t0001g0044 a0013c0014t0001g0066 a0013c0014t0001g0071 a0013c0014t0001g0081 a0022c0023t0001g0040 a0022c0023t0001g0077 a0023c0022t0001g0038 a0023c0022t0001g0064 a0027c0026t0001g0082 a0027c0026t0001g0083 a0041c0082t0001g0080 a0043c0075t0001g0018 a0044c0077t0001g0022 a0045c0076t0001g0001 a0046c0063t0001g0067 a0047c0072t0001g0061 a0048c0071t0001g0037 a0049c0070t0001g0051 a0050c0069t0001g0057 a0051c0066t0001g0065 a0052c0065t0001g0055 a0053c0064t0001g0036 a0054c0067t0001g0046 a0055c0068t0001g0047 a0108c0045t0001g0045 a0109c0044t0001g0058	54	240	0.2250	25	c.386 others(44): Show c.3867+3046_3867+3070dupGAATAGGAGTGGTGAGAGAGGGCAT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	23/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78433923	A A	AGGAAGGA others(18): Show AGGAAGGAGGGAGGGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	252	0.0040	25	c.122 others(44): Show c.12225+105_12225+106insCTCCCTCCTTCCCCTCCCTCCTTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541188	G G	GGGGTGGG others(18): Show GGGGTGGGGGGGGTGAGCGGATGGGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0088 a0088	a0088c0096 a0088c0096	a0088c0096t0001 a0088c0096t0001	a0088c0096t0001g0043 a0088c0096t0001g0043	1	252	0.0040	25	c.253 others(44): Show c.2533-1309_2533-1308insACCCATCCGCTCACCCCCCCCACCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78544800	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02451.hp2 HG00673.hp1 HG02451.hp2	a0018 a0071 a0018 a0071	a0018c0039 a0071c0216 a0018c0039 a0071c0216	a0018c0039t0001 a0071c0216t0001 a0018c0039t0001 a0071c0216t0001	a0018c0039t0001g0212 a0071c0216t0001g0124 a0018c0039t0001g0212 a0071c0216t0001g0124	2	252	0.0079	25	c.239 others(42): Show c.2392-804_2392-803insTTTTTTTTTTTTTTTTTTTTTTTTT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	16/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78570208	G G	GAGGGGAG others(18): Show GAGGGGAGGAAGGGGACCCAGGGGCC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0055 a0055	a0055c0134 a0055c0134	a0055c0134t0001 a0055c0134t0001	a0055c0134t0001g0181 a0055c0134t0001g0181	1	252	0.0040	25	c.104 others(40): Show c.1044+14_1044+38dupGGCCCCTGGGTCCCCTTCCTCCCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	7/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7733475	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0001 a0002c0045t0001	a0002c0045t0001g0225 a0002c0045t0001g0225	1	316	0.0032	25	c.628 others(40): Show c.628+180_628+181insTTTTTTTTTTTTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	5/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7834636	G G	GGGCGGGG others(18): Show GGGCGGGGCGGGGCGGGGCGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01361.hp2 HG02145.hp1 HG01192.hp1 HG01361.hp2 HG02145.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0002c0054 a0008c0036 a0002c0003 a0002c0054 a0008c0036	a0002c0003t0004 a0002c0054t0004 a0008c0036t0002 a0002c0003t0004 a0002c0054t0004 a0008c0036t0002	a0002c0003t0004g0200 a0002c0054t0004g0194 a0008c0036t0002g0074 a0002c0003t0004g0200 a0002c0054t0004g0194 a0008c0036t0002g0074	3	316	0.0095	25	c.11 others(36): Show c.1103_*1104insGGCGGGGCGGGGCGGGGCGGGGCGC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		895		chr17	TogoVar

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