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
DIDO1_chr20_62872743_62931505	62922209	TACATATA others(37): Show TACATATATATACACACACACACATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	320	0.0031	-44	c.-20 others(63): Show c.-200+4186_-200+4229delGTGTGTGTGTATATATATATATGTGT GTGTGTGTATATATATGT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	1/15			chr20	TogoVar
DIP2B_chr12_50499985_50753657	50579642	AAAATATA others(37): Show AAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18957.hp2 NA19086.hp1 HG02809.hp2 NA18957.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0036g0001 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0036g0001	3	284	0.0106	-44	c.101 others(63): Show c.101-46332_101-46289delAATATATATATATATATATATATATA TATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579644	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp2 HG01934.hp1 others(9): Show HG00738.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02148.hp1 HG02293.hp1 HG02523.hp2 NA18947.hp1 NA19060.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0024 a0001c0003t0002g0028 others(9): Show a0001c0003t0002g0019 a0001c0003t0002g0024 a0001c0003t0002g0028 a0001c0003t0002g0053 a0001c0003t0002g0056 a0001c0003t0002g0063 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0073 a0001c0003t0002g0074	12	284	0.0423	-44	c.101 others(63): Show c.101-46300_101-46257delTATATATATATATATATATATATATA TATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	376242	GACCTCGG others(37): Show GACCTCGGCCCCCGACAGAGCCGGCAGGGAGAAGGACCCAGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	-44	c.199 others(63): Show c.1991+6361_1991+6404delGGGCCTGGGTCCTTCTCCCTGCCGGC TCTGTCGGGGGCCGAGGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	376258	AGAGCCGG others(37): Show AGAGCCGGCAGGGAGAAGGACCCAGGCCCACCTCGGCCCCCGACG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01975.hp1 others(5): Show HG01081.hp2 HG01099.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 NA19007.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 a0001c0004 a0001c0006 a0001c0007	a0001c0004t0001 a0001c0006t0001 a0001c0006t0002 others(1): Show a0001c0004t0001 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002	a0001c0004t0001g0068 a0001c0004t0001g0086 a0001c0006t0001g0045 others(5): Show a0001c0004t0001g0068 a0001c0004t0001g0086 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0006t0002g0058 a0001c0007t0002g0076 a0001c0007t0002g0077	8	88	0.0909	-44	c.199 others(63): Show c.1991+6345_1991+6388delCGTCGGGGGCCGAGGTGGGCCTGGGT CCTTCTCCCTGCCGGCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429382	CCCCCCCG others(37): Show CCCCCCCGGACCCTGGCTGCCTCCCCCCCCGGACCCTGGCTGCCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	88	0.0114	-44	c.395 others(61): Show c.395-6393_395-6350delAGGCAGCCAGGGTCCGGGGGGGGAGGCA GCCAGGGTCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	473189	TCAAAACA others(37): Show TCAAAACATTGATGTGAATCCACCTGTCACATATTGATTACATTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	88	0.0114	-44	c.158 others(59): Show c.158-684_158-641delGAATGTAATCAATATGTGACAGGTGGATTC ACATCAATGTTTTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	678634	TGTCCATG others(37): Show TGTCCATGCTCCCCGCACCTGTCCTCCCTGTGCCCAGCTCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00609.hp2 others(58): Show HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02922.hp1 HG03225.hp2 HG03579.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18747.hp1 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA19007.hp1 NA19007.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0020 a0001c0021 a0001c0022 a0001c0023	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0007t0007 a0001c0009t0003 a0001c0011t0003 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001 a0001c0015t0002 a0001c0017t0002 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003 a0001c0023t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(58): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0085 a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0003t0002g0032 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0001g0041 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0003g0039 a0001c0004t0003g0078 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0006t0002g0058 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0007t0007g0060 a0001c0009t0003g0003 a0001c0011t0003g0088 a0001c0012t0002g0052 a0001c0013t0002g0035 a0001c0014t0001g0044 a0001c0015t0002g0083 a0001c0017t0002g0064 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002 a0001c0023t0003g0071	61	88	0.6932	-44	c.85+ others(61): Show c.85+10816_85+10859delGTGGGGAGCTGGGCACAGGGAGGACAGG TGCGGGGAGCATGGAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978638	ATCTATAT others(37): Show ATCTATATATATATATATATATCTATATATAGATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0228 a0001c0001t0009g0228	1	408	0.0025	-44	c.657 others(61): Show c.657+5651_657+5694delCTATATATATATATATATATCTATATAT AGATATATATATATCT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIRAS1_chr19_2709567_2726372	2713166	CCCTCACT others(37): Show CCCTCACTTCCTACACCCATCGCCTCCTCCACCCTTCACCCCATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	412	0.0024	-44	c.40 others(55): Show c.4000_*4043delTATGGGGTGAAGGGTGGAGGAGGCGATGGGTGTA GGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1400		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713187	GCCTCCTC others(37): Show GCCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG03540.hp2 HG02647.hp1 HG02723.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	412	0.0073	-44	c.39 others(55): Show c.3979_*4022delTGATGGGTGTAGGAAGTGAGGTATGGGGTGAAGG GTGGAGGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1379		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713359	CATCACCT others(37): Show CATCACCTCCTCCACCCTTCATCCCATCCGTCACTGTCTACACCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02622.hp1 others(8): Show HG02257.hp2 HG02258.hp1 HG02622.hp1 HG02818.hp1 HG02886.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 others(2): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 a0001c0001t0023 a0001c0001t0033	a0001c0001t0004g0005 a0001c0001t0010g0010 a0001c0001t0019g0025 others(2): Show a0001c0001t0004g0005 a0001c0001t0010g0010 a0001c0001t0019g0025 a0001c0001t0023g0031 a0001c0001t0033g0047	11	412	0.0267	-44	c.38 others(55): Show c.3807_*3850delCGGTGTAGACAGTGACGGATGGGATGAAGGGTGG AGGAGGTGAT	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1207		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713537	TCACCTCC others(37): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02723.hp2 others(2): Show HG02055.hp2 HG02630.hp1 HG02723.hp2 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0027 a0001c0001t0003 a0001c0001t0008 a0001c0001t0027	a0001c0001t0003g0003 a0001c0001t0008g0019 a0001c0001t0027g0045 a0001c0001t0003g0003 a0001c0001t0008g0019 a0001c0001t0027g0045	5	412	0.0121	-44	c.36 others(55): Show c.3629_*3672delGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1029		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713606	CCCTCACT others(37): Show CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02145.hp2 HG02559.hp1 others(10): Show HG01167.hp1 HG02145.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp1 HG02886.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp1 HG04199.hp2 NA18995.hp1 NA19010.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0032 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0032 a0001c0001t0041 a0001c0002t0001	a0001c0001t0003g0003 a0001c0001t0003g0012 a0001c0001t0009g0018 others(4): Show a0001c0001t0003g0003 a0001c0001t0003g0012 a0001c0001t0009g0018 a0001c0001t0009g0020 a0001c0001t0032g0077 a0001c0001t0041g0097 a0001c0002t0001g0002	13	412	0.0316	-44	c.35 others(55): Show c.3560_*3603delAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		960		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713757	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	-44	c.34 others(55): Show c.3409_*3452delACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		809		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713889	TCACCTCC others(37): Show TCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG04115.hp2 HG02723.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0003 a0001c0001t0006g0065 a0001c0001t0003g0003 a0001c0001t0006g0065	2	412	0.0049	-44	c.32 others(55): Show c.3277_*3320delGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		677		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714113	CTCCTCCA others(37): Show CTCCTCCACCCTTCACACCATCCCTCACTTCCTACACCCACCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02015.hp2 NA18951.hp2 HG00423.hp2 HG02015.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	3	412	0.0073	-44	c.30 others(55): Show c.3053_*3096delAGTGGTGGGTGTAGGAAGTGAGGGATGGTGTGAA GGGTGGAGGA	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		453		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714197	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	412	0.0024	-44	c.29 others(55): Show c.2969_*3012delACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		369		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714260	TCCCATCC others(37): Show TCCCATCCCTCACTTCCTACACCCACCACCTTCTCAACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02015.hp2 HG04199.hp2 others(3): Show HG00423.hp2 HG02015.hp2 HG04199.hp2 NA18951.hp2 NA18987.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	6	412	0.0146	-44	c.29 others(55): Show c.2906_*2949delGTGAAGGGTTGAGAAGGTGGTGGGTGTAGGAAGT GAGGGATGGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		306		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2714329	CCACCTCC others(37): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02109.hp1 HG02615.hp1 others(2): Show HG02004.hp1 HG02109.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0005g0071 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0005g0071	5	412	0.0121	-44	c.28 others(55): Show c.2837_*2880delATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		237		chr19	TogoVar
DISC1_chr1_231621790_232046272	231762181	CTTCTTTT others(37): Show CTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTCTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02273.hp1 HG02922.hp2 others(3): Show HG02155.hp1 HG02273.hp1 HG02922.hp2 HG04115.hp2 NA18983.hp1 NA19000.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0006	a0002c0004 a0003c0007 a0004c0013 others(1): Show a0002c0004 a0003c0007 a0004c0013 a0006c0010	a0002c0004t0003 a0002c0004t0004 a0003c0007t0001 others(2): Show a0002c0004t0003 a0002c0004t0004 a0003c0007t0001 a0004c0013t0002 a0006c0010t0003	a0002c0004t0003g0026 a0002c0004t0003g0028 a0002c0004t0004g0004 others(3): Show a0002c0004t0003g0026 a0002c0004t0003g0028 a0002c0004t0004g0004 a0003c0007t0001g0031 a0004c0013t0002g0030 a0006c0010t0003g0027	6	40	0.1500	-44	c.126 others(63): Show c.1269-4947_1269-4904delCTTTTCTTTTCTTTTCTTTTCTCTTC TTTTCTTTTCTTTTCTTT	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP1_chr18_3491032_4460307	3772342	CTCTCTCT others(37): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02622.hp1 HG02622.hp2 others(5): Show HG00099.hp1 HG02622.hp1 HG02622.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp2 HG03669.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0007	a0001c0001t0003 a0001c0002t0008 a0001c0003t0010 others(5): Show a0001c0001t0003 a0001c0002t0008 a0001c0003t0010 a0001c0003t0015 a0001c0004t0001 a0001c0004t0032 a0001c0005t0009 a0002c0007t0016	a0001c0001t0003g0059 a0001c0002t0008g0037 a0001c0003t0010g0040 others(5): Show a0001c0001t0003g0059 a0001c0002t0008g0037 a0001c0003t0010g0040 a0001c0003t0015g0078 a0001c0004t0001g0011 a0001c0004t0032g0065 a0001c0005t0009g0051 a0002c0007t0016g0066	8	80	0.1000	-44	c.117 others(65): Show c.1173-29874_1173-29831delAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	5/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3833130	ATTCCTTC others(37): Show ATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG02486.hp2 others(10): Show HG00140.hp1 HG00639.hp2 HG02486.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03704.hp1 NA19030.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0038 a0001c0001t0041 a0001c0002t0008 a0001c0002t0040 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0006t0013	a0001c0001t0002g0017 a0001c0001t0002g0047 a0001c0001t0004g0001 others(10): Show a0001c0001t0002g0017 a0001c0001t0002g0047 a0001c0001t0004g0001 a0001c0001t0010g0029 a0001c0001t0013g0060 a0001c0001t0038g0075 a0001c0001t0041g0079 a0001c0002t0008g0037 a0001c0002t0040g0055 a0001c0003t0005g0048 a0001c0004t0001g0011 a0001c0004t0002g0035 a0001c0006t0013g0073	13	80	0.1625	-44	c.958 others(63): Show c.958-18901_958-18858delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1100161	GACAGCGT others(37): Show GACAGCGTGTGTAGGGAAAACCTTTGTCCAGCATGTCCACAGTGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0005 a0002c0006t0021 a0002c0001t0005 a0002c0006t0021	a0002c0001t0005g0035 a0002c0006t0021g0014 a0002c0001t0005g0035 a0002c0006t0021g0014	2	40	0.0500	-44	c.74- others(63): Show c.74-158646_74-158603delTACAGCGTGTGTAGGGAAAACCTTTG TCCAGCATGTCCACAGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1100249	GACAGCGT others(37): Show GACAGCGTGTGTAGGGAAAACCTTTGTCCAGCATGTCCACAGTGT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	-44	c.74- others(63): Show c.74-158512_74-158469delCAGCGTGTGTAGGGAAAACCTTTGTC CAGCATGTCCACAGTGTA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1297482	CGAGACAG others(37): Show CGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG03492.hp2 others(2): Show HG02922.hp1 HG02922.hp2 HG03492.hp2 NA18906.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0001 a0003c0005 others(1): Show a0001c0002 a0002c0001 a0003c0005 a0004c0008	a0001c0002t0002 a0001c0002t0006 a0002c0001t0019 others(2): Show a0001c0002t0002 a0001c0002t0006 a0002c0001t0019 a0003c0005t0002 a0004c0008t0016	a0001c0002t0002g0021 a0001c0002t0006g0011 a0002c0001t0019g0030 others(2): Show a0001c0002t0002g0021 a0001c0002t0006g0011 a0002c0001t0019g0030 a0003c0005t0002g0031 a0004c0008t0016g0029	5	40	0.1250	-44	c.106 others(63): Show c.106+38715_106+38758delATGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1297816	GTGAACAG others(37): Show GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02818.hp2 HG02074.hp1 HG02818.hp2	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0020 a0002c0006t0021 a0002c0001t0020 a0002c0006t0021	a0002c0001t0020g0024 a0002c0006t0021g0014 a0002c0001t0020g0024 a0002c0006t0021g0014	2	40	0.0500	-44	c.106 others(63): Show c.106+39021_106+39064delATGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32042094	TATACATA others(37): Show TATACATATATACATACATATACACACATATGTATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG02976.hp2 HG03225.hp1	a0003 a0005 a0003 a0005	a0003c0014 a0005c0057 a0003c0014 a0005c0057	a0003c0014t0010 a0005c0057t0001 a0003c0014t0010 a0005c0057t0001	a0003c0014t0010g0015 a0005c0057t0001g0109 a0003c0014t0010g0015 a0005c0057t0001g0109	2	126	0.0159	-44	c.643 others(65): Show c.6439-73624_6439-73581delGTATATATGTATACATATGTGTGT ATATGTATGTATATATGTAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32452445	GGAAAGGA others(37): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0010 a0010	a0010c0051 a0010c0051	a0010c0051t0011 a0010c0051t0011	a0010c0051t0011g0121 a0010c0051t0011g0121	1	126	0.0079	-44	c.360 others(63): Show c.3603+2173_3603+2216delTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32783258	ATACACAT others(37): Show ATACACATATATGGTATATATACACCATATATACACACATATATG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	126	0.0079	-44	c.649 others(63): Show c.649+26191_649+26234delCATATATGTGTGTATATATGGTGTAT ATATACCATATATGTGTA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DNAAF6_chrX_107201611_107249247	107204749	TTTAAATA others(37): Show TTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(62): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00642.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02280.hp1 HG02451.hp2 HG02602.hp1 HG03490.hp1 HG03669.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19059.hp2 NA19062.hp1 NA19072.hp1 NA19074.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19091.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0138 others(49): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0138 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0222 a0001c0001t0002g0223	65	296	0.2196	-44	c.-19 others(55): Show c.-1944_-1901delTTAAATAAATTTTAAATAAATTATTTAAATAAAT TTTAAATAAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1861		chrX	TogoVar
DNAH14_chr1_224924675_225404286	225335850	TATGTACA others(37): Show TATGTACATATATGTACATACACATATACATATATGTACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00733.hp1 others(23): Show HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01106.hp2 HG01257.hp2 HG01358.hp1 HG02004.hp2 HG02015.hp1 HG02273.hp2 HG02683.hp1 HG02896.hp1 HG03017.hp1 HG03130.hp2 HG03834.hp2 HG03942.hp1 NA18955.hp2 NA18966.hp1 NA18984.hp1 NA19070.hp1 NA19079.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0000 a0005 a0023 others(11): Show a0000 a0005 a0023 a0029 a0034 a0054 a0055 a0065 a0067 a0074 a0075 a0098 a0099 a0107	a0000c0102 a0005c0005 a0005c0031 others(14): Show a0000c0102 a0005c0005 a0005c0031 a0005c0041 a0023c0022 a0029c0033 a0034c0100 a0034c0101 a0054c0067 a0055c0068 a0065c0047 a0067c0061 a0074c0117 a0075c0116 a0098c0104 a0099c0103 a0107c0084	a0000c0102t0003 a0005c0005t0001 a0005c0031t0001 others(14): Show a0000c0102t0003 a0005c0005t0001 a0005c0031t0001 a0005c0041t0001 a0023c0022t0001 a0029c0033t0001 a0034c0100t0001 a0034c0101t0001 a0054c0067t0001 a0055c0068t0001 a0065c0047t0001 a0067c0061t0001 a0074c0117t0001 a0075c0116t0001 a0098c0104t0001 a0099c0103t0001 a0107c0084t0001	a0000c0102t0003g0177 a0005c0005t0001g0116 a0005c0005t0001g0133 others(23): Show a0000c0102t0003g0177 a0005c0005t0001g0116 a0005c0005t0001g0133 a0005c0005t0001g0134 a0005c0005t0001g0150 a0005c0005t0001g0204 a0005c0005t0001g0205 a0005c0005t0001g0238 a0005c0031t0001g0145 a0005c0031t0001g0146 a0005c0041t0001g0125 a0023c0022t0001g0038 a0023c0022t0001g0064 a0029c0033t0001g0161 a0029c0033t0001g0162 a0034c0100t0001g0185 a0034c0101t0001g0203 a0054c0067t0001g0046 a0055c0068t0001g0047 a0065c0047t0001g0233 a0067c0061t0001g0024 a0074c0117t0001g0191 a0075c0116t0001g0190 a0098c0104t0001g0131 a0099c0103t0001g0206 a0107c0084t0001g0207	26	240	0.1083	-44	c.100 others(65): Show c.10081-1413_10081-1370delGTACATATATGTACATACACATAT ACATATATGTACATATACAT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78540879	ATGGGTGG others(37): Show ATGGGTGGATGGATGGGTGGGTGGGTGGGTGGGTGGGTGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18971.hp2 HG02071.hp2 NA18971.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0203 a0007c0004t0001g0204 a0007c0004t0001g0203 a0007c0004t0001g0204	2	252	0.0079	-44	c.253 others(63): Show c.2533-1043_2533-1000delCCCATCCACCCACCCACCCACCCACC CACCCATCCATCCACCCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78558447	CTGACATC others(37): Show CTGACATCACCCTCATGGGTGGATGACATCACCCTCATGGGTGGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02630.hp1 others(4): Show HG02145.hp1 HG02486.hp1 HG02630.hp1 HG02723.hp2 HG02970.hp1 HG03209.hp2 HG03225.hp1	a0011 a0097 a0098 others(3): Show a0011 a0097 a0098 a0102 a0104 a0106	a0011c0007 a0097c0098 a0098c0097 others(3): Show a0011c0007 a0097c0098 a0098c0097 a0102c0209 a0104c0072 a0106c0205	a0011c0007t0002 a0097c0098t0001 a0098c0097t0001 others(3): Show a0011c0007t0002 a0097c0098t0001 a0098c0097t0001 a0102c0209t0001 a0104c0072t0001 a0106c0205t0001	a0011c0007t0002g0045 a0011c0007t0002g0130 a0097c0098t0001g0104 others(4): Show a0011c0007t0002g0045 a0011c0007t0002g0130 a0097c0098t0001g0104 a0098c0097t0001g0105 a0102c0209t0001g0125 a0104c0072t0001g0132 a0106c0205t0001g0145	7	252	0.0278	-44	c.203 others(61): Show c.2032-237_2032-194delTCCACCCATGAGGGTGATGTCATCCACC CATGAGGGTGATGTCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	13/80			chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301866	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19010.hp1 NA19062.hp1 HG02523.hp2 NA19010.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0107	3	398	0.0075	-44	c.987 others(59): Show c.987+742_987+785delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74302014	AGAAGGAA others(37): Show AGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	398	0.0025	-44	c.987 others(59): Show c.987+902_987+945delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAJC12_chr10_67791669_67843188	67819675	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	384	0.0026	-44	c.157 others(61): Show c.157+3595_157+3638delGCTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTTTCTTTCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819683	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGCAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG00639.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	384	0.0052	-44	c.157 others(61): Show c.157+3587_157+3630delCCTTCCTTGCTTCCTTCCTTCCTTCCTT CCTTTCTTTCTTTCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819687	AAAGAAAG others(37): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGCAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp1 HG02080.hp2 others(10): Show HG00438.hp1 HG01257.hp1 HG02080.hp2 HG02257.hp2 HG02258.hp2 HG02723.hp2 HG03486.hp2 NA18945.hp1 NA18970.hp2 NA18979.hp1 NA18984.hp1 NA19043.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0283 others(10): Show a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0001g0299 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036	13	384	0.0339	-44	c.157 others(61): Show c.157+3583_157+3626delCCTTCCTTCCTTGCTTCCTTCCTTCCTT CCTTCCTTTCTTTCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819695	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGCAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	384	0.0026	-44	c.157 others(61): Show c.157+3575_157+3618delCCTTCCTTCCTTCCTTCCTTGCTTCCTT CCTTCCTTCCTTCCTT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNM1L_chr12_32674301_32750650	32717441	AATATATA others(37): Show AATATATACTATATATATTTTAAATATATAGTATATATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02622.hp1 others(3): Show HG02109.hp2 HG02257.hp2 HG02622.hp1 HG02886.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0008 a0001c0001t0014	a0001c0001t0008g0204 a0001c0001t0008g0207 a0001c0001t0008g0208 others(3): Show a0001c0001t0008g0204 a0001c0001t0008g0207 a0001c0001t0008g0208 a0001c0001t0008g0209 a0001c0001t0014g0205 a0001c0001t0014g0206	6	230	0.0261	-44	c.620 others(61): Show c.620-1194_620-1151delCTATATATATTTTAAATATATAGTATAT ATATTATATATATATA	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNMT1_chr19_10128346_10199953	10182479	ATATATAT others(37): Show ATATATATGTGTATATATATGTGTGTATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	386	0.0026	-44	c.81- others(57): Show c.81-446_81-403delCATATATATGTATATATATACACACATATATA TACACATATATA	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40			chr19	TogoVar
DOCK11_chrX_118490815_118691147	118657846	GGAGGAAT others(37): Show GGAGGAATTAAAGACTACACATTGGGTACTGCTCGGGTGACAGGT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	211	0.0047	-44	c.496 others(63): Show c.4969+2886_4969+2929delGAGGAATTAAAGACTACACATTGGGT ACTGCTCGGGTGACAGGT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	44/52			chrX	TogoVar
DOCK3_chr3_50669927_51389198	51016078	TCATATAT others(37): Show TCATATATTTCTACATATGATATATATCATATATTTCTACATATG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0188 a0001c0001t0020g0188	1	212	0.0047	-44	c.316 others(63): Show c.316-48369_316-48326delCATATATTTCTACATATGATATATAT CATATATTTCTACATATG	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51041178	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02280.hp1 HG02486.hp2 others(7): Show HG01934.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0001c0013	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0013t0001	a0001c0001t0001g0155 a0001c0001t0001g0186 a0001c0001t0001g0193 others(7): Show a0001c0001t0001g0155 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0003t0001g0001 a0001c0009t0001g0194 a0001c0013t0001g0208	10	212	0.0472	-44	c.316 others(63): Show c.316-23268_316-23225delATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK4_chr7_111721110_112211399	112066670	CATATACA others(37): Show CATATACATATATACATATACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	106	0.0094	-44	c.38- others(61): Show c.38-62583_38-62540delATATATATATATATATATATATATGTAT ATGTATATATGTATAT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
DOK5_chr20_54470593_54656169	54481045	TCATCTGT others(37): Show TCATCTGTCTATCATCTATCTATCATCTATCTATCTATCATCTAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG02559.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0031 a0001c0001t0016 a0001c0002t0031	a0001c0001t0016g0073 a0001c0002t0031g0074 a0001c0001t0016g0073 a0001c0002t0031g0074	2	130	0.0154	-44	c.66+ others(59): Show c.66+5039_66+5082delGTCTATCATCTATCTATCATCTATCTATCT ATCATCTACCATCT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69659918	ATAACATA others(37): Show ATAACATATATGTATGTTTTATATATATAACATATATGTATGTTT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0154 a0001c0001t0007g0154	1	170	0.0059	-44	c.290 others(63): Show c.290-17813_290-17770delACATATATGTATGTTTTATATATATA ACATATATGTATGTTTTA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK7_chr4_3458306_3499482	3483080	TGGCAGCC others(37): Show TGGCAGCCTCCTGAGTGGAGATGTAGGGGTGTGGAGGGTGGGGAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG01934.hp2 others(40): Show HG01496.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19004.hp1 NA19030.hp2 NA19079.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0013	a0001c0001 a0002c0002 a0004c0007 others(2): Show a0001c0001 a0002c0002 a0004c0007 a0006c0006 a0013c0029	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0021 a0001c0001t0030 a0002c0002t0001 a0002c0002t0028 a0004c0007t0022 a0006c0006t0002 a0013c0029t0002	a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0088 others(37): Show a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0088 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0145 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0367 a0001c0001t0005g0038 a0001c0001t0005g0223 a0001c0001t0012g0010 a0001c0001t0021g0087 a0001c0001t0030g0114 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0244 a0002c0002t0001g0374 a0002c0002t0028g0361 a0004c0007t0022g0240 a0006c0006t0002g0203 a0006c0006t0002g0254 a0006c0006t0002g0280 a0006c0006t0002g0281 a0006c0006t0002g0283 a0006c0006t0002g0310 a0006c0006t0002g0320 a0013c0029t0002g0026	43	404	0.1064	-44	c.533 others(61): Show c.533-2304_533-2261delTAGGGGTGTGGAGGGTGGGGACGGCAGC CTCCTGAGTGGAGATG	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(37): Show TACACACACACACACACACACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02976.hp1 HG03209.hp1 others(1): Show HG02015.hp1 HG02976.hp1 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0081 a0001c0001t0038 a0001c0001t0081	a0001c0001t0038g0129 a0001c0001t0038g0137 a0001c0001t0038g0242 others(1): Show a0001c0001t0038g0129 a0001c0001t0038g0137 a0001c0001t0038g0242 a0001c0001t0081g0170	4	426	0.0094	-44	c.65 others(53): Show c.659_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	659		chr21	TogoVar

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