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
DHRS12_chr13_51762993_51809163	51776145	TTCTCCTA others(31): Show TTCTCCTACATGTATTCTACAGTATTCTCCTACATGTAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	420	0.0024	-38	c.363 others(53): Show c.363+877_363+914delGTACATGTAGGAGAATACTGTAGAATACAT GTAGGAGA	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS9_chr2_169064563_169101167	169070719	TGGTGTTA others(31): Show TGGTGTTAAAACTCTTATAACAAATGTCACTGTCTTAAG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	398	0.0025	-38	c.-60 others(55): Show c.-60+1005_-60+1042delTGTTAAAACTCTTATAACAAATGTCACT GTCTTAAGGG	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079918	GGGGAGAG others(31): Show GGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp2 HG02622.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0366 a0001c0002t0002g0367 a0001c0002t0002g0366 a0001c0002t0002g0367	2	398	0.0050	-38	c.-59 others(55): Show c.-59-1603_-59-1566delGGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079977	GAGAGAGA others(31): Show GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01169.hp2 HG01243.hp1 others(3): Show HG00597.hp1 HG01169.hp2 HG01243.hp1 HG02074.hp2 NA18944.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0047 a0001c0002t0002g0165 others(2): Show a0001c0002t0002g0007 a0001c0002t0002g0047 a0001c0002t0002g0165 a0001c0002t0002g0170 a0001c0002t0002g0314	6	398	0.0151	-38	c.-59 others(55): Show c.-59-1542_-59-1505delGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHX15_chr4_24522475_24589554	24547877	CTCTCTCT others(31): Show CTCTCTCTCTCTCTATGTATGTATGTGTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03540.hp1 HG02895.hp2 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191	3	374	0.0080	-38	c.124 others(55): Show c.1248+940_1248+977delTATATATATATACACATACATACATAGA GAGAGAGAGA	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	6/13			chr4	TogoVar
DIAPH2_chrX_96679842_97609997	96962288	TATATATA others(31): Show TATATATATATACATATATATATACATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	147	0.0068	-38	c.193 others(57): Show c.1936-2781_1936-2744delCATATATATATACACATATATATATA CATATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185437	GTATATAT others(31): Show GTATATATATATGTGTGTGTATATATATATATATACACA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0070 a0001c0001t0023g0070	1	147	0.0068	-38	c.271 others(59): Show c.2719+43655_2719+43692delGTGTGTGTATATATATATATATAC ACATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2B_chr12_50499985_50753657	50579638	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	284	0.0035	-38	c.101 others(57): Show c.101-46336_101-46299delAAAAAATATATATATATATATATATA TATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579642	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01515.hp2 HG01074.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0169 a0001c0001t0001g0143 a0001c0001t0001g0169	2	284	0.0070	-38	c.101 others(57): Show c.101-46332_101-46295delAATATATATATATATATATATATATA TATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579644	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02818.hp1 others(1): Show HG02258.hp2 HG02615.hp1 HG02818.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0004t0005 a0001c0006t0009 a0001c0001t0001 a0001c0004t0005 a0001c0006t0009	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0004t0005g0282 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0004t0005g0282 a0001c0006t0009g0194	4	284	0.0141	-38	c.101 others(57): Show c.101-46294_101-46257delTATATATATATATATATATATATATA TATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	347125	CGGACACA others(31): Show CGGACACATCGCGCATAGTTCTCCCGGAAACCCCACACT	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0068	1	88	0.0114	-38	c.323 others(57): Show c.3231+1478_3231+1515delAGTGTGGGGTTTCCGGGAGAACTATG CGCGATGTGTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417622	GCCTGTCA others(31): Show GCCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00609.hp2 others(50): Show HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02300.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA19007.hp1 NA19007.hp2 NA19066.hp2 NA19081.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0007t0007 a0001c0008t0001 a0001c0009t0001 a0001c0011t0003 a0001c0013t0002 a0001c0014t0001 a0001c0015t0002 a0001c0016t0009 a0001c0018t0003 a0001c0019t0006 a0001c0021t0002 a0001c0022t0003 a0001c0023t0003	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0002g0004 others(50): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0003g0085 a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0003g0078 a0001c0005t0001g0009 a0001c0005t0002g0010 a0001c0005t0002g0087 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0006t0002g0058 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0007t0007g0060 a0001c0008t0001g0018 a0001c0009t0001g0007 a0001c0011t0003g0088 a0001c0013t0002g0035 a0001c0014t0001g0044 a0001c0015t0002g0083 a0001c0016t0009g0073 a0001c0018t0003g0011 a0001c0019t0006g0014 a0001c0021t0002g0081 a0001c0022t0003g0002 a0001c0023t0003g0071	53	88	0.6023	-38	c.739 others(55): Show c.739+1405_739+1442delAACAGGTGGACAGGGAGGCCTATCCGAG CCCTGACAGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	418200	CAGGCCTC others(31): Show CAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp2 HG02717.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0016 a0001c0015 a0001c0016	a0001c0015t0002 a0001c0016t0009 a0001c0015t0002 a0001c0016t0009	a0001c0015t0002g0083 a0001c0016t0009g0073 a0001c0015t0002g0083 a0001c0016t0009g0073	2	88	0.0227	-38	c.739 others(53): Show c.739+827_739+864delATCGAAGCCCTGACAGGAACAGGTGGACAG GGAGGCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	424950	AGATGATA others(31): Show AGATGATACAGCATGACCAGCAGTGACTAATACGACACG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01952.hp1 NA18970.hp2 others(1): Show HG01099.hp2 HG01952.hp1 NA18970.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0001 a0001c0002t0003 a0001c0004t0001	a0001c0002t0003g0036 a0001c0004t0001g0068 a0001c0004t0001g0084 others(1): Show a0001c0002t0003g0036 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086	4	88	0.0455	-38	c.395 others(55): Show c.395-1955_395-1918delCGTGTCGTATTAGTCACTGCTGGTCATG CTGTATCATC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	424971	AGTGACTA others(31): Show AGTGACTAATACGACACGGATGATACAGCATGACCAGCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0021 a0001c0018 a0001c0021	a0001c0018t0003 a0001c0021t0002 a0001c0018t0003 a0001c0021t0002	a0001c0018t0003g0011 a0001c0021t0002g0081 a0001c0018t0003g0011 a0001c0021t0002g0081	2	88	0.0227	-38	c.395 others(55): Show c.395-1976_395-1939delCGCTGGTCATGCTGTATCATCCGTGTCG TATTAGTCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	425085	GGTGACTA others(31): Show GGTGACTAATATGACACGGATGATACAGCATGACCAGCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0083 a0001c0015t0002g0083	1	88	0.0114	-38	c.395 others(55): Show c.395-2090_395-2053delTGCTGGTCATGCTGTATCATCCGTGTCA TATTAGTCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	425285	ATGACACG others(31): Show ATGACACGGATGATACAGCATGACCAGCGGTGACTAATG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0011 a0001c0018t0003g0011	1	88	0.0114	-38	c.395 others(55): Show c.395-2290_395-2253delCATTAGTCACCGCTGGTCATGCTGTATC ATCCGTGTCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	425389	GGTGACTA others(31): Show GGTGACTAATATGACACGGATGATACGGCATGACCAGCA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0002 a0001c0022t0003g0002	1	88	0.0114	-38	c.395 others(55): Show c.395-2394_395-2357delTGCTGGTCATGCCGTATCATCCGTGTCA TATTAGTCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978644	ATATATAT others(31): Show ATATATATATATATATCTATATATAGATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	408	0.0025	-38	c.657 others(55): Show c.657+5671_657+5708delCTATATATAGATATATATATATCTATAT ATATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLG2_chr11_83450173_85632344	83503369	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	14	0.0714	-38	c.219 others(59): Show c.2194-19179_2194-19142delTATATATATATATATATATATATA TATATATATATATA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	21/27			chr11	TogoVar
DLGAP2_chr8_732628_1713476	1181049	ACACTTAC others(31): Show ACACTTACTGTCGAGTGTGGGTGGCTGTGCAAGGGCAGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02818.hp2 others(1): Show HG01891.hp2 HG02258.hp2 HG02818.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0006 a0001c0003 a0002c0001 a0002c0006	a0001c0003t0006 a0001c0003t0014 a0002c0001t0005 others(1): Show a0001c0003t0006 a0001c0003t0014 a0002c0001t0005 a0002c0006t0021	a0001c0003t0006g0033 a0001c0003t0014g0020 a0002c0001t0005g0035 others(1): Show a0001c0003t0006g0033 a0001c0003t0014g0020 a0002c0001t0005g0035 a0002c0006t0021g0014	4	40	0.1000	-38	c.74- others(55): Show c.74-77725_74-77688delCACTTACTGTCGAGTGTGGGTGGCTGTG CAAGGGCAGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1282048	GTGGTGTG others(31): Show GTGGTGTGACCTGAACCCAGCACATGAACCATCCGGACA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02074.hp1 HG02895.hp1 others(5): Show HG01361.hp1 HG02074.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03516.hp2 NA18906.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005 a0004c0008	a0001c0002t0006 a0001c0003t0001 a0002c0001t0001 others(4): Show a0001c0002t0006 a0001c0003t0001 a0002c0001t0001 a0002c0001t0019 a0002c0001t0020 a0003c0005t0002 a0004c0008t0016	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 others(5): Show a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 a0002c0001t0001g0018 a0002c0001t0019g0030 a0002c0001t0020g0024 a0003c0005t0002g0031 a0004c0008t0016g0029	8	40	0.2000	-38	c.106 others(57): Show c.106+23188_106+23225delATGAACCATCCGGACATGGTGTGACC TGAACCCAGCAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1282610	GTGAACCA others(31): Show GTGAACCATCCAGACGTGGTGTGACCTGAACCCAGCGCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02895.hp1 HG02922.hp1 others(4): Show HG02074.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03516.hp2 NA18906.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005 a0004c0008	a0001c0002t0006 a0001c0003t0001 a0002c0001t0019 others(3): Show a0001c0002t0006 a0001c0003t0001 a0002c0001t0019 a0002c0001t0020 a0003c0005t0002 a0004c0008t0016	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 others(4): Show a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 a0002c0001t0019g0030 a0002c0001t0020g0024 a0003c0005t0002g0031 a0004c0008t0016g0029	7	40	0.1750	-38	c.106 others(57): Show c.106+23803_106+23840delATGAACCATCCAGACGTGGTGTGACC TGAACCCAGCGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1396023	CGTGTATT others(31): Show CGTGTATTGAGTGCTTACTGAGCCTCATCCTCCAGGGTA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03492.hp2 HG02258.hp1 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0005 a0001c0002t0002 a0002c0001t0005	a0001c0002t0002g0021 a0002c0001t0005g0028 a0001c0002t0002g0021 a0002c0001t0005g0028	2	40	0.0500	-38	c.107 others(59): Show c.107-105321_107-105284delCCTCATCCTCCAGGGTAGTGTATT GAGTGCTTACTGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1653656	TTCCTGTA others(31): Show TTCCTGTATTTGCTTGGGCTGTGAACTGCAGGGGCGGAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG01496.hp2 others(10): Show HG01071.hp2 HG01496.hp1 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02922.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0012 a0002c0001 others(4): Show a0001c0003 a0001c0012 a0002c0001 a0002c0004 a0002c0006 a0003c0005 a0004c0008	a0001c0003t0013 a0001c0003t0017 a0001c0012t0004 others(10): Show a0001c0003t0013 a0001c0003t0017 a0001c0012t0004 a0002c0001t0002 a0002c0001t0011 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0003c0005t0002 a0003c0005t0004 a0004c0008t0016	a0001c0003t0013g0007 a0001c0003t0017g0004 a0001c0012t0004g0036 others(10): Show a0001c0003t0013g0007 a0001c0003t0017g0004 a0001c0012t0004g0036 a0002c0001t0002g0013 a0002c0001t0011g0001 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0003c0005t0002g0031 a0003c0005t0004g0037 a0004c0008t0016g0029	13	40	0.3250	-38	c.181 others(59): Show c.1811-14624_1811-14587delGCTTGGGCTGTGAACTGCAGGGGC GGACTCCTGTATTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP4_chr20_36301339_36533633	36317257	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTATCTTTCTTTCTTTCTTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0114 a0001c0001t0021g0114	1	144	0.0069	-38	c.-30 others(59): Show c.-304+10758_-304+10795delTCTTTCTTATCTTTCTTTCTTTCT TATCTTTCTTTCTT	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36380593	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0072 a0001c0001t0025g0072	1	144	0.0069	-38	c.-73 others(57): Show c.-73+13352_-73+13389delGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP5_chr14_55143135_55196585	55144877	TTGCTGTA others(31): Show TTGCTGTAAAGTTACTTTCTCTGGATCTTAACTGGTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	362	0.0028	-38	c.34 others(49): Show c.3436_*3473delGGGACCAGTTAAGATCCAGAGAAAGTAACTTTAC AGCA	DLGAP5	ENSG00000126787.13	transcript	ENST00000247191.7	protein_coding		3257		chr14	TogoVar
DMBT1_chr10_122555754_122648736	122634402	TTTCTTTC others(31): Show TTTCTTTCTTTCTCTCTCTCTCTCTCTCTTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0004 a0019c0026t0004	a0019c0026t0004g0103 a0019c0026t0004g0103	1	282	0.0036	-38	c.654 others(57): Show c.6548+1063_6548+1100delTCTTTCTTTCTCTCTCTCTCTCTCTC TTCTCTCTCTCT	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	52/55		INFO_REALIGN_3_PRIME	chr10	TogoVar
DMD_chrX_31114222_33216549	31187717	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp1 NA18522.hp1 HG02572.hp1 HG03139.hp1 NA18522.hp1	a0002 a0005 a0027 a0002 a0005 a0027	a0002c0020 a0005c0045 a0027c0058 a0002c0020 a0005c0045 a0027c0058	a0002c0020t0030 a0005c0045t0018 a0027c0058t0019 a0002c0020t0030 a0005c0045t0018 a0027c0058t0019	a0002c0020t0030g0125 a0005c0045t0018g0118 a0027c0058t0019g0116 a0002c0020t0030g0125 a0005c0045t0018g0118 a0027c0058t0019g0116	3	126	0.0238	-38	c.980 others(57): Show c.9808-4851_9808-4814delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	67/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32042150	CATACATA others(31): Show CATACATATACACACATATGTATACATATATACATACAT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0068 a0007c0018t0001g0068	1	126	0.0079	-38	c.643 others(59): Show c.6439-73674_6439-73637delATGTATGTATATATGTATACATAT GTGTGTATATGTAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32252669	TATATATA others(31): Show TATATATAAATATATAAATATATATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18994.hp1 HG01943.hp1 NA18994.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0001 a0005c0007t0001 a0001c0002t0001 a0005c0007t0001	a0001c0002t0001g0088 a0005c0007t0001g0079 a0001c0002t0001g0088 a0005c0007t0001g0079	2	126	0.0159	-38	c.629 others(59): Show c.6290+34822_6290+34859delTTATATATATTTATATATATATTT ATATATTTATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32336006	TTATATAT others(31): Show TTATATATAACGTGTATATATAACGTTATATATAACGTG	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02976.hp1 HG02293.hp2 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0002 a0002c0009t0001 a0002c0009t0002	a0002c0009t0001g0065 a0002c0009t0002g0002 a0002c0009t0001g0065 a0002c0009t0002g0002	2	126	0.0159	-38	c.592 others(57): Show c.5922+6056_5922+6093delCACGTTATATATAACGTTATATATAC ACGTTATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DNAAF3_chr19_55153665_55171613	55159776	TGGGGGCC others(31): Show TGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTG	T T	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0074 a0001c0004t0001g0074	1	398	0.0025	-38	c.116 others(54): Show c.1163+85_1163+122delCAGCCCCTCCTTGCTTAGACCCAGGGGTC CAGGCCCCC	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding	10/11			chr19	TogoVar
DNAH10_chr12_123757301_123940714	123908064	GCTGTCTC others(31): Show GCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00738.hp1 others(29): Show HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01071.hp2 HG01109.hp1 HG01169.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp2 NA19030.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0007 others(13): Show a0001 a0004 a0007 a0008 a0013 a0014 a0019 a0020 a0023 a0024 a0025 a0051 a0054 a0056 a0062 a0071	a0001c0003 a0004c0006 a0007c0010 others(15): Show a0001c0003 a0004c0006 a0007c0010 a0007c0097 a0008c0008 a0013c0014 a0014c0016 a0019c0013 a0020c0022 a0023c0023 a0024c0024 a0025c0079 a0025c0080 a0051c0038 a0054c0064 a0056c0072 a0062c0074 a0071c0085	a0001c0003t0002 a0004c0006t0001 a0007c0010t0001 others(15): Show a0001c0003t0002 a0004c0006t0001 a0007c0010t0001 a0007c0097t0001 a0008c0008t0001 a0013c0014t0001 a0014c0016t0001 a0019c0013t0001 a0020c0022t0001 a0023c0023t0001 a0024c0024t0001 a0025c0079t0001 a0025c0080t0001 a0051c0038t0001 a0054c0064t0001 a0056c0072t0001 a0062c0074t0001 a0071c0085t0001	a0001c0003t0002g0105 a0004c0006t0001g0061 a0004c0006t0001g0065 others(29): Show a0001c0003t0002g0105 a0004c0006t0001g0061 a0004c0006t0001g0065 a0004c0006t0001g0068 a0004c0006t0001g0087 a0004c0006t0001g0108 a0007c0010t0001g0125 a0007c0010t0001g0127 a0007c0010t0001g0128 a0007c0097t0001g0126 a0008c0008t0001g0011 a0008c0008t0001g0013 a0008c0008t0001g0019 a0013c0014t0001g0037 a0013c0014t0001g0041 a0014c0016t0001g0102 a0014c0016t0001g0103 a0019c0013t0001g0098 a0019c0013t0001g0106 a0020c0022t0001g0120 a0020c0022t0001g0121 a0023c0023t0001g0022 a0023c0023t0001g0024 a0024c0024t0001g0005 a0024c0024t0001g0008 a0025c0079t0001g0080 a0025c0080t0001g0004 a0051c0038t0001g0119 a0054c0064t0001g0109 a0056c0072t0001g0122 a0062c0074t0001g0010 a0071c0085t0001g0066	32	170	0.1882	-38	c.981 others(57): Show c.9816-1159_9816-1122delCCTGTCTCCTCCCTGTCTCTCTGTCT CCTCCCTGTCTC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	57/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAI4_chr1_66807885_66929856	66836228	GAGAGAGA others(31): Show GAGAGAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	264	0.0038	-38	c.158 others(55): Show c.1582-489_1582-452delTTCTTTCTTTCTCTCTCTCTCTTTCTTT CTTTCTCTCT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	10/16			chr1	TogoVar
DNAJA4_chr15_78259562_78287191	78273312	AGCAGAGA others(31): Show AGCAGAGATTACAAACAGGTGGCCTGAGGGCCACACTTC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	442	0.0023	-38	c.418 others(53): Show c.418+114_418+151delGCAGAGATTACAAACAGGTGGCCTGAGGGC CACACTTC	DNAJA4	ENSG00000140403.13	transcript	ENST00000394852.8	protein_coding	3/6			chr15	TogoVar
DNAJB12_chr10_72327863_72359919	72356829	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01081.hp2 others(30): Show HG00408.hp1 HG00408.hp2 HG01081.hp2 HG01106.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02080.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02647.hp1 HG02895.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18951.hp1 NA18956.hp2 NA18995.hp1 NA19003.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0004 a0001c0001 a0001c0007 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0007t0001 a0004c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0002g0002 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0011g0049 a0001c0007t0001g0151 a0004c0004t0003g0052 a0004c0004t0003g0053	33	292	0.1130	-38	c.-19 others(49): Show c.-1970_-1933delATATATATATATATATATATATATATATATATAT ATAT	DNAJB12	ENSG00000148719.16	transcript	ENST00000444643.8	protein_coding		1911		chr10	TogoVar
DNAJB6_chr7_157332004_157422439	157411250	CCCCACGG others(31): Show CCCCACGGTTCCCTGCACTGAGCGGGCGTGGGGAAGGTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(22): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00621.hp2 HG02040.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp2 HG02559.hp2 HG03139.hp2 NA18612.hp2 NA18944.hp2 NA18951.hp2 NA18960.hp1 NA18965.hp1 NA18969.hp2 NA18975.hp2 NA18983.hp1 NA18989.hp1 NA18993.hp1 NA19012.hp2 NA19043.hp1 NA19060.hp2 NA19082.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0054 others(22): Show a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0199 a0001c0001t0001g0221 a0001c0001t0001g0242 a0001c0001t0001g0281 a0001c0001t0001g0317 a0001c0001t0001g0342 a0001c0001t0001g0370 a0001c0001t0002g0006 a0001c0001t0002g0155 a0001c0001t0002g0217 a0001c0001t0002g0340 a0001c0001t0003g0101 a0001c0005t0001g0148	25	372	0.0672	-38	c.898 others(55): Show c.898+1254_898+1291delCGGTTCCCTGCACTGAGCGGGCGTGGGG AAGGTTCCCA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC12_chr10_67791669_67843188	67819741	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	384	0.0026	-38	c.157 others(55): Show c.157+3535_157+3572delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67841920	CAGGAGAA others(31): Show CAGGAGAAAAGAATGATTTAGGGGGCCAGGCTCAGGGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0379 a0001c0002t0002g0379	1	384	0.0026	-38	c.-39 others(49): Show c.-3947_-3910delCACCCTGAGCCTGGCCCCCTAAATCATTCTTTTC TCCT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding		3733		chr10	TogoVar
DNAJC3_chr13_95672139_95799988	95764687	CACACACA others(31): Show CACACACACATATATATATACATATATATATACACATAT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0018 a0003c0005t0018	a0003c0005t0018g0369 a0003c0005t0018g0369	1	374	0.0027	-38	c.107 others(55): Show c.1075+736_1075+773delCACACACATATATATATACATATATATA TACACATATA	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNM1L_chr12_32674301_32750650	32717258	GTATATAT others(31): Show GTATATATATACTATATATTATATATACACTATATATTT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03834.hp2 HG03927.hp1 others(1): Show HG02132.hp2 HG03834.hp2 HG03927.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0216 a0001c0003t0010g0217 a0001c0003t0010g0218 others(1): Show a0001c0003t0010g0216 a0001c0003t0010g0217 a0001c0003t0010g0218 a0001c0003t0010g0219	4	230	0.0174	-38	c.620 others(55): Show c.620-1376_620-1339delTACTATATATTATATATACACTATATAT TTTATATATA	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNM2_chr19_10713079_10836903	10818188	CCTCCCTC others(31): Show CCTCCCTCCATGGCCACCGGGCCCCTCTCCTATGCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(73): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00673.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01255.hp1 HG01496.hp1 HG01928.hp1 HG02015.hp1 HG02040.hp1 HG02155.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02976.hp1 HG03471.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18962.hp2 NA18963.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18995.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0005t0002 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002	a0001c0001t0001g0034 a0001c0001t0001g0095 a0001c0001t0001g0102 others(73): Show a0001c0001t0001g0034 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0224 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0002g0277 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0162 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0037 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0002g0096 a0001c0002t0002g0144 a0001c0002t0002g0163 a0001c0002t0002g0198 a0001c0002t0002g0213 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0276 a0001c0002t0004g0068 a0001c0002t0004g0072 a0001c0002t0007g0045 a0001c0002t0010g0092 a0001c0002t0011g0079 a0001c0002t0012g0149 a0001c0005t0002g0141 a0001c0007t0002g0076 a0001c0009t0002g0018 a0001c0010t0002g0077	76	278	0.2734	-38	c.167 others(57): Show c.1672-1726_1672-1689delCCTATGCTCTGCTCCCTCCATGGCCA CCGGGCCCCTCT	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNMT1_chr19_10128346_10199953	10182417	GTATATAT others(31): Show GTATATATATGTGTGTATATATATACATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0120 a0014c0023t0001g0120	1	386	0.0026	-38	c.81- others(51): Show c.81-378_81-341delTACACATATATATGTATATATATACACACATA TATATA	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40			chr19	TogoVar
DNMT1_chr19_10128346_10199953	10182453	GTATATAT others(31): Show GTATATATATGTGTGTATATATATACATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0103 a0002c0003t0003g0103	1	386	0.0026	-38	c.81- others(51): Show c.81-414_81-377delTACACATATATATGTATATATATACACACATA TATATA	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40			chr19	TogoVar
DNMT1_chr19_10128346_10199953	10182478	CATATATA others(31): Show CATATATATGTGTATATATATGTGTGTATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	386	0.0026	-38	c.81- others(51): Show c.81-439_81-402delATGTATATATATACACACATATATATACACAT ATATAT	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40			chr19	TogoVar
DNTTIP1_chr20_45786954_45816418	45800690	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	412	0.0024	-38	c.373 others(53): Show c.373-382_373-345delAAAATATATATATATATATATATATATATA TATATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800692	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02559.hp2 HG02897.hp1 others(2): Show HG00741.hp2 HG02559.hp2 HG02897.hp1 HG02965.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	5	412	0.0121	-38	c.373 others(53): Show c.373-380_373-343delAATATATATATATATATATATATATATATA TATATATA	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800694	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02572.hp1 others(10): Show HG01243.hp1 HG01884.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0047 a0001c0001t0002g0048 others(4): Show a0001c0001t0002g0011 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0123 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140	13	412	0.0316	-38	c.373 others(53): Show c.373-355_373-318delATATATATATATATATATATATATATATAT ATATATAT	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar

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