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
CSPP1_chr8_67059392_67201614	67160026	C C	CTTTTCTT others(34): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	158	0.0063	41	c.253 others(58): Show c.2538+898_2538+899insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTTCTTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165667003	G G	GAGGAAGG others(34): Show GAGGAAGGAAGGAAGGAAAGAGAGGAAGAAAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18984.hp1 NA19009.hp2 others(1): Show NA18972.hp2 NA18984.hp1 NA19009.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0020 a0001c0002t0021 a0001c0004t0088 others(1): Show a0001c0001t0020 a0001c0002t0021 a0001c0004t0088 a0001c0004t0089	a0001c0001t0020g0088 a0001c0002t0021g0245 a0001c0004t0088g0087 others(1): Show a0001c0001t0020g0088 a0001c0002t0021g0245 a0001c0004t0088g0087 a0001c0004t0089g0020	4	246	0.0163	41	c.408 others(58): Show c.408+9006_408+9007insGAAGAAAGAGAGAGAGAAAGGAAGGAAG GAAGGAAAGAGAG	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490163	T T	TTATATAT others(34): Show TTATATATATAATATATATATAAATTATATATATATTAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(5): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG01358.hp1 HG02056.hp2 NA19074.hp2 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0017 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0045	8	440	0.0182	41	c.-13 others(52): Show c.-1323_-1322insTATATATATAATATATATATAAATTATATATATA TTAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		953		chr20	TogoVar
CST8_chr20_23486117_23501010	23490374	T T	TTATATAT others(34): Show TTATATATATTAATTATATATATATAAAATATATATAAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	440	0.0023	41	c.-11 others(52): Show c.-1112_-1111insTATATATATTAATTATATATATATAAAATATATA TAAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		742		chr20	TogoVar
CST9_chr20_23597410_23610917	23610414	C C	CGGGGGTT others(34): Show CGGGGGTTAGCAGGGGGGGGGGGTGGGGGGGGGGCCCCCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	41	c.-45 others(52): Show c.-4551_-4550insACCGGGGGCCCCCCCCCCACCCCCCCCCCCTGCT AACCCCC	CST9	ENSG00000173335.5	transcript	ENST00000376971.4	protein_coding		4498		chr20	TogoVar
CT45A1_chrX_135708639_135728228	135712982	C C	CTTTCTTT others(34): Show CTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 NA18747.hp1 NA18978.hp2 HG01255.hp1 NA18747.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0035	3	57	0.0526	41	c.-71 others(50): Show c.-715_-714insTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCC TTCCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		656		chrX	TogoVar
CTDSPL2_chr15_44422629_44534038	44506025	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	234	0.0043	41	c.969 others(58): Show c.969+6234_969+6235insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTNNA1_chr5_138748425_138940034	138916177	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	180	0.0056	41	c.139 others(60): Show c.1390-1551_1390-1550insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	80577704	T T	TGTTTTGT others(34): Show TGTTTTGTTTTTTATTTTTGTTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	68	0.0147	41	c.189 others(60): Show c.1893+3390_1893+3391insGTTTTGTTTTTTATTTTTGTTTGTTG TTGTTGTTGTTGTTG	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	13/18			chr2	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGGATGT others(34): Show GGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18997.hp2 NA19000.hp2 others(1): Show NA18612.hp1 NA18997.hp2 NA19000.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0035 a0001c0001t0001g0079 a0001c0001t0001g0084	4	386	0.0104	41	c.827 others(56): Show c.827+380_827+381insTCCATCCCCTCCATCCCTCCATCCCTCCAT CCCCACATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSD_chr11_1747755_1768927	1754561	G G	GATGGAGG others(34): Show GATGGAGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	2	386	0.0052	41	c.827 others(56): Show c.827+344_827+345insTCCTCCATCCCCTCCATCCCTCCATCCCTC CATCCCTCCAT	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CYP26B1_chr2_72124238_72152862	72132146	G G	GCCCCCTC others(34): Show GCCCCCTCCCACACACAGGTTTCTACCTCCCACAACCGCCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0082 a0002c0002t0037g0082	1	312	0.0032	41	c.80 others(48): Show c.80_*81insGTGGCGGTTGTGGGAGGTAGAAACCTGTGTGTGGGAGG GGG	CYP26B1	ENSG00000003137.9	transcript	ENST00000001146.7	protein_coding	6/6	80		chr2	TogoVar
CYP2U1_chr4_107926549_107958461	107944851	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	382	0.0026	41	c.491 others(56): Show c.491-119_491-118insATATATATATATATATATATATATATATAT ATATATATATA	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4			chr4	TogoVar
CYP2W1_chr7_978181_994640	990224	T T	TGGTGTGG others(34): Show TGGTGTGGTCGGCAGTGTGACAGTGGCGCGTGTGCTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG03098.hp1 HG00733.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0039 a0001c0001t0012g0058 a0001c0001t0002g0039 a0001c0001t0012g0058	2	408	0.0049	41	c.14 others(52): Show c.1402_*1403insGGTGTGGTCGGCAGTGTGACAGTGGCGCGTGTGC TGGGGGC	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		585		chr7	TogoVar
CYP2W1_chr7_978181_994640	990265	C C	CGGTGTGG others(34): Show CGGTGTGGTCGGCAGTGTGACAGTGGCGCGTGTGCTGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	41	c.14 others(52): Show c.1443_*1444insGGTGTGGTCGGCAGTGTGACAGTGGCGCGTGTGC TGGGGGT	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		626		chr7	TogoVar
CYP4F11_chr19_15907377_15939529	15932095	A A	AGTGAGCG others(34): Show AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0180 a0002c0001t0015g0180	1	386	0.0026	41	c.198 others(58): Show c.198+2115_198+2116insATCATTCCTCTCCCCGCTCACTCATTCC TCTCCCCGCTCAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932301	C C	CGAGGAGA others(34): Show CGAGGAGAGGAATGAGTGAGCGGGGCAGAGGAATGAGTGAGT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0025 a0001c0004t0025	a0001c0004t0025g0366 a0001c0004t0025g0366	1	386	0.0026	41	c.198 others(58): Show c.198+1909_198+1910insACTCACTCATTCCTCTGCCCCGCTCACT CATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933311	A A	AGTGAGTG others(34): Show AGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0164 a0002c0001t0004g0164	1	386	0.0026	41	c.198 others(56): Show c.198+899_198+900insCTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15674689	C C	CACTCACT others(34): Show CACTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	410	0.0024	41	c.198 others(56): Show c.198+962_198+963insACTCACTCACTCATTCCTCTCCTCACTCAC TCATTCCTCTT	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12			chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78269106	A A	AATATATA others(34): Show AATATATATTATATATTATATATAATATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	240	0.0042	41	c.36 others(52): Show c.3626_*3627insATTATATATTATATATATTATATATAATATATAA TATATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2361		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269106	A A	AATATATA others(34): Show AATATATATTATATATTATATATATTATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0050 a0002c0003t0002g0050	1	240	0.0042	41	c.36 others(52): Show c.3626_*3627insATTATATATTATATATAATATATATAATATATAA TATATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2361		chrX	TogoVar
DAGLB_chr7_6404129_6452954	6421309	A A	AGCGCGGG others(34): Show AGCGCGGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19088.hp1 NA18955.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0001 a0001c0002t0002 a0003c0005t0001	a0001c0002t0002g0108 a0003c0005t0001g0297 a0001c0002t0002g0108 a0003c0005t0001g0297	2	380	0.0053	41	c.121 others(58): Show c.1218+417_1218+418insTGCGCCTCCCGCGCTGCCTGCGCCTCCC GCGCTGCCCGCGC	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAO_chr12_108875092_108906043	108903322	G G	GAAGGAAG others(34): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02257.hp1 others(5): Show HG01243.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02922.hp2 HG02970.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0002t0002g0012 others(2): Show a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0002t0002g0012 a0001c0002t0002g0218 a0001c0002t0002g0219	8	388	0.0206	41	c.27 others(52): Show c.2787_*2788insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2280		chr12	TogoVar
DAP_chr5_10674230_10766234	10685220	T T	TACATTAC others(34): Show TACATTACCTTGGTTTTATTTAGTGTTTGTTGTGTGGTTACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(266): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(237): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0002g0209 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0003g0001 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0004g0004 a0001c0001t0004g0013 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0139 a0001c0001t0004g0165 a0001c0001t0004g0171 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0005g0003 a0001c0001t0005g0006 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0143 a0001c0001t0005g0163 a0001c0001t0005g0172 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0284 a0001c0001t0005g0287 a0001c0001t0006g0018 a0001c0001t0006g0020 a0001c0001t0006g0022 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0006g0307 a0001c0001t0006g0323 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0006g0334 a0001c0001t0006g0336 a0001c0001t0007g0103 a0001c0001t0007g0202 a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0001t0007g0240 a0001c0001t0007g0249 a0001c0001t0007g0260 a0001c0001t0007g0264 a0001c0001t0008g0014 a0001c0001t0008g0043 a0001c0001t0008g0164 a0001c0001t0008g0185 a0001c0001t0008g0187 a0001c0001t0008g0214 a0001c0001t0009g0308 a0001c0001t0009g0309 a0001c0001t0009g0318 a0001c0001t0009g0328 a0001c0001t0010g0045 a0001c0001t0010g0193 a0001c0001t0010g0210 a0001c0001t0010g0211 a0001c0001t0010g0212 a0001c0001t0011g0270 a0001c0001t0011g0271 a0001c0001t0011g0272 a0001c0001t0011g0273 a0001c0001t0012g0060 a0001c0001t0012g0061 a0001c0001t0012g0084 a0001c0001t0012g0088 a0001c0001t0013g0024 a0001c0001t0013g0025 a0001c0001t0013g0026 a0001c0001t0014g0293 a0001c0001t0014g0294 a0001c0001t0014g0295 a0001c0001t0016g0095 a0001c0001t0016g0096 a0001c0001t0017g0174 a0001c0001t0017g0175 a0001c0001t0018g0300 a0001c0001t0018g0329 a0001c0001t0021g0067 a0001c0001t0022g0094 a0001c0001t0023g0117 a0001c0001t0024g0246 a0001c0001t0025g0057 a0001c0001t0026g0146 a0001c0001t0027g0269 a0001c0001t0029g0330 a0001c0001t0030g0337 a0001c0001t0031g0338 a0001c0002t0001g0199	269	372	0.7231	41	c.153 others(58): Show c.153-1690_153-1650dupGGTAACCACACAACAAACACTAAATAAA ACCAAGGTAATGT	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	2/3			chr5	TogoVar
DBNDD1_chr16_89999871_90024456	90007863	C C	CCAGGACT others(34): Show CCAGGACTTCCCAAGGGGCCTCAGCCCACCACGCACACCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG03139.hp2 others(3): Show HG02109.hp2 HG02809.hp1 HG03139.hp2 HG03453.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0136 a0001c0001t0005g0157 others(3): Show a0001c0001t0005g0130 a0001c0001t0005g0136 a0001c0001t0005g0157 a0001c0001t0005g0185 a0001c0001t0005g0213 a0001c0001t0005g0224	6	412	0.0146	41	c.319 others(56): Show c.319+920_319+921insAGAGGTGTGCGTGGTGGGCTGAGGCCCCTT GGGAAGTCCTG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008072	G G	GTCCCAAG others(34): Show GTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAGGACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20129.hp2 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0180 a0001c0001t0003g0139 a0001c0001t0003g0180	2	412	0.0049	41	c.319 others(56): Show c.319+711_319+712insAGTCCTGGGAGGTGTGCGTGGTGGGCTGAG GCCCCTTGGGA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008154	G G	GTCCCAAG others(34): Show GTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(152): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp2 HG02145.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18967.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18998.hp2 NA19002.hp2 NA19004.hp2 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(122): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0261 a0001c0001t0002g0268 a0001c0001t0002g0291 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0048 a0001c0001t0003g0056 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0188 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0214 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0004g0230 a0001c0001t0006g0156 a0001c0001t0006g0171 a0001c0001t0006g0175 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0015g0099 a0001c0001t0016g0115	155	412	0.3762	41	c.319 others(56): Show c.319+629_319+630insAGTCCTGGGAGGTGTGGGTGGTGGGCTGAG GCCCCTTGGGA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008382	C C	CCACACCT others(34): Show CCACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02055.hp2 others(21): Show HG01243.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03579.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0054 others(19): Show a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0231 a0001c0001t0010g0161 a0001c0001t0010g0162	24	412	0.0583	41	c.319 others(56): Show c.319+401_319+402insCGTGGTGGGCTGAGGCCCCTTGGGACGTCC TGGGAGGTGTG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008665	A A	AACACACC others(34): Show AACACACCTCCCAGGACGTCCCAAGGGCCCTCAGCCCACCAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	412	0.0024	41	c.319 others(55): Show c.319+78_319+118dupGTGGTGGGCTGAGGGCCCTTGGGACGTCCTG GGAGGTGTGT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008666	A A	ACACACCT others(34): Show ACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	412	0.0024	41	c.319 others(56): Show c.319+117_319+118insGGTGGTGGGCTGAGGCCCCTTGGGAAGTCC TGGGAGGTGTG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DCBLD2_chr3_98790941_98906695	98870737	A A	AAAAGAAA others(34): Show AAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02698.hp2 NA18978.hp1 HG02055.hp2 HG02698.hp2 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0018 a0001c0005t0006 a0001c0002t0002 a0001c0002t0018 a0001c0005t0006	a0001c0002t0002g0014 a0001c0002t0018g0090 a0001c0005t0006g0132 a0001c0002t0002g0014 a0001c0002t0018g0090 a0001c0005t0006g0132	3	330	0.0091	41	c.433 others(60): Show c.433+10802_433+10803insCTTTCTTTCTTTCTTTCTTTTCTTTC TTTCTTTCTTTCTTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0023 a0002c0004t0003g0023	1	114	0.0088	41	c.91+ others(60): Show c.91+174748_91+174749insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300972	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp1 HG02486.hp2 others(1): Show HG00738.hp2 HG01884.hp1 HG02486.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0023 a0002c0004 a0001c0003 a0001c0023 a0002c0004	a0001c0003t0003 a0001c0023t0001 a0002c0004t0003 a0001c0003t0003 a0001c0023t0001 a0002c0004t0003	a0001c0003t0003g0073 a0001c0023t0001g0106 a0002c0004t0003g0012 others(1): Show a0001c0003t0003g0073 a0001c0023t0001g0106 a0002c0004t0003g0012 a0002c0004t0003g0023	4	114	0.0351	41	c.191 others(60): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCCTTTC TTTCTTTCTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300989	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0040 a0002c0001t0029g0040	1	114	0.0088	41	c.191 others(60): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53351405	A A	ATATATAT others(34): Show ATATATATACTGTATATATATATACAGTATATATATACAGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00642.hp1 others(21): Show HG00280.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01106.hp2 HG01346.hp1 HG01993.hp1 HG02080.hp1 HG02602.hp2 HG03017.hp1 HG03471.hp2 HG03669.hp1 HG04199.hp1 HG04228.hp1 NA18948.hp1 NA18948.hp2 NA18966.hp1 NA18971.hp2 NA18982.hp1 NA19043.hp1 NA19057.hp2 NA19065.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0002 a0002c0001 a0002c0022 others(2): Show a0001c0002 a0002c0001 a0002c0022 a0004c0009 a0008c0016	a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 others(11): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 a0002c0001t0001 a0002c0001t0002 a0002c0001t0015 a0002c0001t0018 a0002c0001t0029 a0002c0001t0035 a0002c0001t0036 a0002c0022t0024 a0004c0009t0002 a0004c0009t0027 a0008c0016t0021	a0001c0002t0002g0005 a0001c0002t0009g0049 a0001c0002t0014g0051 others(21): Show a0001c0002t0002g0005 a0001c0002t0009g0049 a0001c0002t0014g0051 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0067 a0002c0001t0001g0080 a0002c0001t0002g0017 a0002c0001t0002g0018 a0002c0001t0002g0027 a0002c0001t0002g0055 a0002c0001t0002g0063 a0002c0001t0002g0070 a0002c0001t0002g0081 a0002c0001t0002g0089 a0002c0001t0015g0064 a0002c0001t0018g0034 a0002c0001t0029g0040 a0002c0001t0035g0085 a0002c0001t0036g0087 a0002c0022t0024g0031 a0004c0009t0002g0016 a0004c0009t0027g0084 a0008c0016t0021g0033	24	114	0.2105	41	c.235 others(62): Show c.2359+11506_2359+11507insCTGTATATATATATACAGTATATA TATACAGTGTATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24358752	T T	TATATATT others(34): Show TATATATTTATATATTATATATTTTTATATATAATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG03540.hp2 others(2): Show HG02615.hp1 HG02809.hp1 HG03540.hp2 NA18962.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0006	a0001c0001t0037 a0002c0002t0013 a0002c0002t0020 others(2): Show a0001c0001t0037 a0002c0002t0013 a0002c0002t0020 a0003c0003t0012 a0003c0006t0005	a0001c0001t0037g0162 a0002c0002t0013g0164 a0002c0002t0020g0166 others(2): Show a0001c0001t0037g0162 a0002c0002t0013g0164 a0002c0002t0020g0166 a0003c0003t0012g0165 a0003c0006t0005g0161	5	216	0.0232	41	c.-10 others(52): Show c.-1003_-1002insTTTATATATTATATATAAAAATATATAATATATA AATATAT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		694		chr6	TogoVar
DCLK1_chr13_35763652_36136382	35847623	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19090.hp1 NA18747.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0042 a0001c0001t0001 a0001c0001t0042	a0001c0001t0001g0036 a0001c0001t0042g0185 a0001c0001t0001g0036 a0001c0001t0042g0185	2	230	0.0087	41	c.103 others(60): Show c.1035+6875_1035+6876insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	6/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251418	A A	ACCCACAT others(34): Show ACCCACATACCCCCACACACCCCACATAACCCCACACACCCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19058.hp1 HG04204.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0082 a0001c0001t0003g0093 a0001c0001t0002g0082 a0001c0001t0003g0093	2	116	0.0172	41	c.207 others(60): Show c.2073+1741_2073+1742insACCCCCACACACCCCACATAACCCCA CACACCCCCCCACAT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCP2_chr5_112971798_113027195	112984703	A A	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0070 a0001c0010t0070	a0001c0010t0070g0043 a0001c0010t0070g0043	1	364	0.0028	41	c.54- others(56): Show c.54-1131_54-1130insAAATATATATATATATATATATATATATAT ATATATATATA	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DCUN1D5_chr11_103045686_103097160	103049791	A A	ATATATAT others(34): Show ATATATATATATATATATACATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0142 a0001c0001t0073g0142	1	318	0.0031	41	c.12 others(54): Show c.12567_*12568insAAAAAAAAAAAAAAAAAAATATGTATATATAT ATATATATA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		894		chr11	TogoVar
DDA1_chr19_17304563_17328298	17315334	C C	CTATATAT others(34): Show CTATATATATACACTATATATACACACGTATATATATACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00738.hp2 others(8): Show HG00099.hp2 HG00140.hp2 HG00738.hp2 HG01123.hp1 HG02293.hp2 HG02451.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0036 a0001c0001t0008 a0001c0001t0036	a0001c0001t0008g0009 a0001c0001t0008g0174 a0001c0001t0008g0175 others(4): Show a0001c0001t0008g0009 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0241 a0001c0001t0036g0009	11	388	0.0284	41	c.137 others(56): Show c.137-600_137-599insTATATATATACACTATATATACACACGTAT ATATATACACA	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4			chr19	TogoVar
DDR2_chr1_162627464_162792405	162728004	A A	ATATATAT others(34): Show ATATATATAGATATAATCACACTATATATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02965.hp1 HG00558.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0116 a0001c0002t0001g0189 a0001c0001t0002g0116 a0001c0002t0001g0189	2	302	0.0066	41	c.82+ others(56): Show c.82+8899_82+8939dupTCTATATATAGATATAATCACACTATATAT ATCTATATATA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162729300	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0053 a0001c0002t0040g0053	1	302	0.0033	41	c.82+ others(58): Show c.82+10156_82+10157insATATATATATATATATATATATATATAT ATATATTTTTTTT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162729300	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0283 a0001c0001t0012g0283	1	302	0.0033	41	c.82+ others(58): Show c.82+10156_82+10157insATATATATATATATATATATATATATAT ATATTTTTTTTTT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDX10_chr11_108660069_108945927	108837607	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	320	0.0031	41	c.196 others(58): Show c.1966-804_1966-803insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX51_chr12_132131594_132149319	132148960	C C	CACACCAC others(34): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA18995.hp1 NA19079.hp1 HG04204.hp2 NA18995.hp1 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0032 a0001c0001t0001 a0003c0003t0032	a0001c0001t0001g0001 a0003c0003t0032g0046 a0001c0001t0001g0001 a0003c0003t0032g0046	3	334	0.0090	41	c.-46 others(52): Show c.-4665_-4664insCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4642		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149004	C C	CACACCAC others(34): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	41	c.-47 others(52): Show c.-4709_-4708insTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGT GTGGTGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4686		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149004	C C	CACACCAC others(34): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 NA19005.hp2 HG01167.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0005 a0001c0001t0001 a0002c0005t0005	a0001c0001t0001g0040 a0002c0005t0005g0008 a0001c0001t0001g0040 a0002c0005t0005g0008	2	334	0.0060	41	c.-47 others(52): Show c.-4709_-4708insCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGT GTGGTGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4686		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149036	C C	CGCCGCCT others(34): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0023 a0004c0004t0023	a0004c0004t0023g0080 a0004c0004t0023g0080	1	334	0.0030	41	c.-47 others(52): Show c.-4741_-4740insACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCG AGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4718		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149212	C C	CGCCGCCT others(34): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0024 a0002c0016t0004g0024	1	334	0.0030	41	c.-49 others(52): Show c.-4917_-4916insACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTG AGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4894		chr12	TogoVar

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