Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
CUX1_chr7_101811007_102288958	102217725	C C	CGTGATGG others(30): Show CGTGATGGTGTCTAGAGGGAGGGAGGCTCTGGATGGAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02723.hp1 others(5): Show HG02055.hp2 HG02451.hp1 HG02723.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0003c0006 a0001c0001 a0001c0013 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0013t0004 a0003c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0011g0053 a0001c0013t0004g0007 a0003c0006t0001g0119	8	132	0.0606	37	c.125 others(58): Show c.1255+22159_1255+22195dupTGTGATGGTGTCTAGAGGGAGGGA GGCTCTGGATGGA	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101811007_102288958	102278657	A A	AATAAAAT others(30): Show AATAAAATAAAATAAAATAAAATAAAAAAATAAAATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02572.hp1 others(8): Show HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02896.hp1 HG02976.hp1 HG03041.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0003t0013 a0002c0005t0001 a0002c0003t0001 a0002c0003t0013 a0002c0005t0001	a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0075 others(8): Show a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0075 a0002c0003t0001g0080 a0002c0003t0001g0120 a0002c0003t0001g0128 a0002c0003t0013g0055 a0002c0005t0001g0005 a0002c0005t0001g0016 a0002c0005t0001g0017 a0002c0005t0001g0097	11	132	0.0833	37	c.168 others(54): Show c.1680+593_1680+594insTAAAATAAAATAAAATAAAATAAAAAAA TAAAATATA	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102217725	C C	CGTGATGG others(30): Show CGTGATGGTGTCTAGAGGGAGGGAGGCTCTGGATGGAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02723.hp2 others(4): Show HG02055.hp1 HG02451.hp2 HG02723.hp2 HG02818.hp1 HG02897.hp1 HG03098.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0016 a0002c0005 a0001c0004 a0001c0016 a0002c0005	a0001c0004t0002 a0001c0004t0015 a0001c0004t0028 others(3): Show a0001c0004t0002 a0001c0004t0015 a0001c0004t0028 a0001c0016t0015 a0002c0005t0013 a0002c0005t0025	a0001c0004t0002g0049 a0001c0004t0015g0110 a0001c0004t0028g0109 others(4): Show a0001c0004t0002g0049 a0001c0004t0015g0110 a0001c0004t0028g0109 a0001c0016t0015g0134 a0002c0005t0013g0002 a0002c0005t0013g0078 a0002c0005t0025g0046	7	136	0.0515	37	c.313 others(56): Show c.3131-9605_3131-9569dupTGTGATGGTGTCTAGAGGGAGGGAGG CTCTGGATGGA	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111257478	C C	CCCCCTCC others(30): Show CCCCCTCCCACTTCTTCCTCCCCCTCCCACTTCTTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02698.hp2 NA20129.hp2 others(1): Show HG02145.hp1 HG02698.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0013 a0002c0006 a0001c0002 a0001c0013 a0002c0006	a0001c0002t0001 a0001c0013t0001 a0002c0006t0001 a0001c0002t0001 a0001c0013t0001 a0002c0006t0001	a0001c0002t0001g0025 a0001c0013t0001g0063 a0002c0006t0001g0053 others(1): Show a0001c0002t0001g0025 a0001c0013t0001g0063 a0002c0006t0001g0053 a0002c0006t0001g0089	4	100	0.0400	37	c.223 others(54): Show c.223-6256_223-6255insACTTCTTCCTCCCCTCCCACTTCTTCCT CCCCCTCCC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYFIP1_chr15_22862052_22985368	22963506	T T	TAACATAA others(30): Show TAACATAACATAACATAACATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18986.hp2 NA19077.hp1 HG02630.hp2 NA18986.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0018 a0001c0001t0004 a0002c0003t0018	a0001c0001t0004g0256 a0001c0001t0004g0257 a0002c0003t0018g0252 a0001c0001t0004g0256 a0001c0001t0004g0257 a0002c0003t0018g0252	3	342	0.0088	37	c.-6- others(54): Show c.-6-16252_-6-16216dupTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963511	T T	TAACATAA others(30): Show TAACATAACATAACATAACATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18947.hp2 NA19010.hp2 NA18944.hp1 NA18947.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0001t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0249 a0001c0002t0002g0258 a0001c0002t0003g0149 a0001c0001t0001g0249 a0001c0002t0002g0258 a0001c0002t0003g0149	3	342	0.0088	37	c.-6- others(54): Show c.-6-16257_-6-16221dupTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963516	T T	TAACATAA others(30): Show TAACATAACATAACATAACATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp2 HG03471.hp1 HG03579.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0009 a0002c0009t0036 a0002c0009t0009 a0002c0009t0036	a0002c0009t0009g0254 a0002c0009t0036g0253 a0002c0009t0009g0254 a0002c0009t0036g0253	2	342	0.0059	37	c.-6- others(54): Show c.-6-16262_-6-16226dupTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYLC2_chr9_102990333_103023488	103013322	T T	TATATATA others(30): Show TATATATATTTATATATTATAGAAATATATATTATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0042 a0001c0005t0042	a0001c0005t0042g0194 a0001c0005t0042g0195 a0001c0005t0042g0194 a0001c0005t0042g0195	2	448	0.0045	37	c.81 others(56): Show c.816+1236_*816+1237insTATATTATAGAAATATATATTATATA ATATATATTTA	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYLC2_chr9_102990333_103023488	103013322	T T	TATATATA others(30): Show TATATATATTTATATATTATATAAATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG03098.hp1 HG02615.hp1 HG02809.hp1 HG03098.hp1	a0006 a0010 a0006 a0010	a0006c0007 a0010c0012 a0006c0007 a0010c0012	a0006c0007t0061 a0006c0007t0062 a0010c0012t0060 a0006c0007t0061 a0006c0007t0062 a0010c0012t0060	a0006c0007t0061g0197 a0006c0007t0062g0196 a0010c0012t0060g0243 a0006c0007t0061g0197 a0006c0007t0062g0196 a0010c0012t0060g0243	3	448	0.0067	37	c.81 others(56): Show c.816+1236_*816+1237insTATATTATATAAATATATATTATATA ATATATATTTA	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYLC2_chr9_102990333_103023488	103013333	A A	AATATATT others(30): Show AATATATTATATAAATATATATTATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02723.hp1 others(4): Show HG02258.hp1 HG02572.hp1 HG02723.hp1 HG02809.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0014 a0001c0001 a0012c0014	a0001c0001t0033 a0001c0001t0058 a0001c0001t0059 others(3): Show a0001c0001t0033 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0012c0014t0033	a0001c0001t0033g0060 a0001c0001t0058g0058 a0001c0001t0059g0058 others(3): Show a0001c0001t0033g0060 a0001c0001t0058g0058 a0001c0001t0059g0058 a0001c0001t0063g0246 a0001c0001t0064g0083 a0012c0014t0033g0245	7	448	0.0156	37	c.81 others(56): Show c.816+1264_*816+1265insTATATATTTATATATTATATAAATAT ATATTATATAA	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYLC2_chr9_102990333_103023488	103013865	T T	TATATATT others(30): Show TATATATTATACATATAATAAATAATATATTATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19011.hp1 NA19065.hp2 NA18979.hp2 NA19011.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	3	448	0.0067	37	c.81 others(56): Show c.816+1773_*816+1809dupATTATACATATAATAAATAATATATT ATATATAATAT	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP2C18_chr10_94678729_94741190	94712008	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0105 a0002c0002t0003g0105	1	378	0.0027	37	c.819 others(54): Show c.819+5068_819+5069insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CYP2C18	ENSG00000108242.13	transcript	ENST00000285979.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP2U1_chr4_107926549_107958461	107944851	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0201 a0001c0001t0001g0164 a0001c0001t0001g0201	2	382	0.0052	37	c.491 others(52): Show c.491-119_491-118insATATATATATATATATATATATATATATAT ATATATA	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4			chr4	TogoVar
CYP2W1_chr7_978181_994640	990202	A A	AGTGGCGC others(30): Show AGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	408	0.0025	37	c.13 others(48): Show c.1380_*1381insGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAG TGT	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		563		chr7	TogoVar
CYP2W1_chr7_978181_994640	990202	A A	AGTGGTGC others(30): Show AGTGGTGCGTGTGCTGGGGGCGGTGTGGTCAGCAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01496.hp2 others(2): Show HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01993.hp1 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	5	408	0.0123	37	c.13 others(48): Show c.1380_*1381insGTGGTGCGTGTGCTGGGGGCGGTGTGGTCAGCAG TGT	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		563		chr7	TogoVar
CYP2W1_chr7_978181_994640	990243	A A	AGGGGCGC others(30): Show AGGGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00738.hp2 others(40): Show HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG02027.hp1 HG02273.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 NA18943.hp2 NA18951.hp2 NA18955.hp1 NA18961.hp1 NA18961.hp2 NA18974.hp1 NA18994.hp2 NA19004.hp1 NA19010.hp2 NA19054.hp2 NA19064.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0013	a0001c0002 a0003c0004 a0010c0017 others(1): Show a0001c0002 a0003c0004 a0010c0017 a0013c0019	a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 others(3): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0003c0004t0002 a0010c0017t0002 a0013c0019t0002	a0001c0002t0002g0004 a0001c0002t0002g0013 a0001c0002t0002g0022 others(8): Show a0001c0002t0002g0004 a0001c0002t0002g0013 a0001c0002t0002g0022 a0001c0002t0002g0033 a0001c0002t0002g0044 a0001c0002t0002g0048 a0001c0002t0008g0004 a0001c0002t0009g0014 a0003c0004t0002g0005 a0010c0017t0002g0004 a0013c0019t0002g0013	43	408	0.1054	37	c.14 others(48): Show c.1421_*1422insGGGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAG TGT	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		604		chr7	TogoVar
CYP2W1_chr7_978181_994640	990243	A A	AGTGGCGC others(30): Show AGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG02056.hp1 others(22): Show HG00597.hp1 HG00597.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02135.hp1 NA18948.hp2 NA18949.hp1 NA18954.hp1 NA18962.hp1 NA18966.hp1 NA18969.hp1 NA18972.hp2 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19081.hp2	a0002 a0016 a0002 a0016	a0002c0003 a0016c0022 a0002c0003 a0016c0022	a0002c0003t0001 a0016c0022t0001 a0002c0003t0001 a0016c0022t0001	a0002c0003t0001g0002 a0002c0003t0001g0042 a0002c0003t0001g0049 others(3): Show a0002c0003t0001g0002 a0002c0003t0001g0042 a0002c0003t0001g0049 a0002c0003t0001g0052 a0002c0003t0001g0054 a0016c0022t0001g0002	25	408	0.0613	37	c.14 others(48): Show c.1421_*1422insGTGGCGCGTGTGCTGGGGGCGGTGTGGTCGGCAG TGT	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		604		chr7	TogoVar
CYP4F12_chr19_15668087_15702174	15674689	C C	CACTCACT others(30): Show CACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(7): Show a0001 a0002 a0006 a0007 a0008 a0009 a0013 a0015 a0016 a0017	a0001c0001 a0001c0008 a0001c0011 others(12): Show a0001c0001 a0001c0008 a0001c0011 a0001c0016 a0002c0002 a0002c0005 a0002c0019 a0006c0006 a0007c0009 a0008c0010 a0009c0025 a0013c0015 a0015c0018 a0016c0020 a0017c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0008t0002 a0001c0011t0001 a0001c0016t0001 a0002c0002t0001 a0002c0002t0003 a0002c0005t0001 a0002c0019t0001 a0006c0006t0001 a0007c0009t0001 a0008c0010t0001 a0009c0025t0003 a0013c0015t0001 a0015c0018t0001 a0016c0020t0001 a0017c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(163): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0003g0160 a0001c0001t0003g0167 a0001c0001t0003g0197 a0001c0001t0006g0002 a0001c0001t0006g0037 a0001c0008t0002g0083 a0001c0008t0002g0086 a0001c0008t0002g0111 a0001c0011t0001g0030 a0001c0016t0001g0056 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0059 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0120 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0196 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0005t0001g0001 a0002c0005t0001g0027 a0002c0019t0001g0004 a0006c0006t0001g0013 a0006c0006t0001g0133 a0006c0006t0001g0134 a0007c0009t0001g0007 a0007c0009t0001g0092 a0008c0010t0001g0036 a0009c0025t0003g0168 a0013c0015t0001g0204 a0015c0018t0001g0014 a0016c0020t0001g0151 a0017c0017t0001g0002	321	410	0.7829	37	c.198 others(52): Show c.198+962_198+963insACTCACTCATTCCTCTCCTCACTCACTCAT TCCTCTT	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15656524	T T	TCTATCTA others(30): Show TCTATCTATCTATCTATGTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0012 a0001c0005t0004g0012	1	424	0.0024	37	c.111 others(56): Show c.1116-1740_1116-1739insCTATCTATCTATCTATGTATCTATCT ATCTATCTATC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	9/12			chr19	TogoVar
CYP4F8_chr19_15610218_15635639	15616212	T T	TCACTCAC others(30): Show TCACTCACTCATTCTCCTCACTCACTCATTCCTCTGCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp1 HG01069.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	2	412	0.0049	37	c.198 others(52): Show c.198+411_198+412insTCCTCACTCACTCATTCCTCTGCCCACTCA CTCATTC	CYP4F8	ENSG00000186526.13	transcript	ENST00000612078.5	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH2_chr19_48464369_48487314	48478773	A A	AGGGGCCT others(30): Show AGGGGCCTGGACGCCTGGGTCTGACGGAGGAGGGGCCG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0035 a0001c0001t0028g0035	1	366	0.0027	37	c.111 others(54): Show c.1112+192_1112+193insGCCTGGGTCTGACGGAGGAGGGGCCGGG GGCCTGGAC	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH2_chr19_48464369_48487314	48478822	C C	CCCTGGGT others(30): Show CCCTGGGTCTGACGGAGGAGGGGCCGGGGGCCTGGACT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(10): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG01884.hp2 HG02155.hp2 HG02886.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03654.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0030 a0001c0002t0004 a0001c0002t0030	a0001c0002t0004g0008 a0001c0002t0004g0015 a0001c0002t0004g0089 others(4): Show a0001c0002t0004g0008 a0001c0002t0004g0015 a0001c0002t0004g0089 a0001c0002t0004g0090 a0001c0002t0004g0094 a0001c0002t0004g0095 a0001c0002t0030g0092	13	366	0.0355	37	c.111 others(54): Show c.1113-256_1113-220dupCTGACGGAGGAGGGGCCGGGGGCCTGGA CTCCTGGGT	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH2_chr19_48464369_48487314	48483248	C C	CCCCTCCT others(30): Show CCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCTCCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 NA18941.hp1 HG02165.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	366	0.0055	37	c.40 others(48): Show c.4038_*4039insCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCTCC AGG	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding		935		chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241751878	A A	AGGCCTGG others(30): Show AGGCCTGGGCAGGGGGAGCCCTCGGTCACCGTCACCGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02630.hp1 others(2): Show HG02055.hp1 HG02486.hp2 HG02630.hp1 HG03225.hp1 NA19000.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0002 a0005c0004 a0007c0007 a0002c0002 a0005c0004 a0007c0007	a0002c0002t0007 a0005c0004t0001 a0005c0004t0002 others(1): Show a0002c0002t0007 a0005c0004t0001 a0005c0004t0002 a0007c0007t0007	a0002c0002t0007g0075 a0002c0002t0007g0170 a0005c0004t0001g0377 others(2): Show a0002c0002t0007g0075 a0002c0002t0007g0170 a0005c0004t0001g0377 a0005c0004t0002g0346 a0007c0007t0007g0349	5	412	0.0121	37	c.114 others(54): Show c.1140+572_1140+608dupGCAGGGGGAGCCCTCGGTCACCGTCACC GGGGCCTGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241751927	G G	GGGGAGCC others(30): Show GGGGAGCCCTCGGTCACCGTCACCGGGGCCTGGATAGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG02027.hp1 others(37): Show HG00558.hp2 HG00639.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG03669.hp1 NA18945.hp2 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18998.hp2 NA19007.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2	a0002 a0007 a0011 others(2): Show a0002 a0007 a0011 a0019 a0020	a0002c0002 a0007c0007 a0011c0035 others(2): Show a0002c0002 a0007c0007 a0011c0035 a0019c0031 a0020c0030	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0012 a0002c0002t0026 a0002c0002t0039 a0002c0002t0049 a0007c0007t0004 a0007c0007t0026 a0011c0035t0001 a0019c0031t0004 a0020c0030t0003	a0002c0002t0001g0005 a0002c0002t0001g0047 a0002c0002t0001g0050 others(35): Show a0002c0002t0001g0005 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0065 a0002c0002t0001g0079 a0002c0002t0001g0187 a0002c0002t0002g0008 a0002c0002t0002g0098 a0002c0002t0002g0105 a0002c0002t0003g0262 a0002c0002t0004g0038 a0002c0002t0004g0042 a0002c0002t0004g0044 a0002c0002t0004g0045 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0051 a0002c0002t0004g0052 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0055 a0002c0002t0004g0057 a0002c0002t0004g0059 a0002c0002t0004g0060 a0002c0002t0004g0132 a0002c0002t0004g0160 a0002c0002t0004g0208 a0002c0002t0009g0263 a0002c0002t0009g0293 a0002c0002t0012g0227 a0002c0002t0026g0043 a0002c0002t0039g0279 a0002c0002t0049g0106 a0007c0007t0004g0037 a0007c0007t0026g0046 a0011c0035t0001g0304 a0019c0031t0004g0186 a0020c0030t0003g0283	40	412	0.0971	37	c.114 others(54): Show c.1140+571_1140+572insATAGTGGGAGCCCTCGGTCACCGTCACC GGGGCCTGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241751964	G G	GGGGAGCC others(30): Show GGGGAGCCCTCGGTCACCGTCACCGGGGCCTGGATAGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20300.hp1 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0067 a0001c0001t0008g0168 a0001c0001t0008g0067 a0001c0001t0008g0168	2	412	0.0049	37	c.114 others(54): Show c.1140+584_1140+620dupCTCGGTCACCGTCACCGGGGCCTGGATA GTGGGAGCC	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAB1_chr1_56989778_57429060	57207446	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0028	1	138	0.0073	37	c.68- others(54): Show c.68-62018_68-62017insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(30): Show CTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp2 NA19006.hp1 HG01884.hp2 NA18906.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0087 a0001c0001t0001g0127 a0001c0001t0001g0006 a0001c0001t0001g0087 a0001c0001t0001g0127	3	166	0.0181	37	c.640 others(56): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCTTCCTTCT TCTTCCTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DAPK1_chr9_87492867_87713634	87571474	C C	CACACACC others(30): Show CACACACCCCAACACACACACACACACACACCCCAACA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18982.hp1 NA18961.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0001 a0001c0004t0001 a0002c0003t0001	a0001c0004t0001g0164 a0002c0003t0001g0163 a0001c0004t0001g0164 a0002c0003t0001g0163	2	236	0.0085	37	c.63- others(54): Show c.63-33480_63-33479insACACACCCCAACACACACACACACACAC ACCCCAACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCAACACA others(30): Show CCAACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01261.hp1 HG01261.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0102 a0002c0008t0001g0155 a0001c0001t0001g0102 a0002c0008t0001g0155	2	236	0.0085	37	c.63- others(54): Show c.63-33457_63-33456insCAACACACACACACACACACACACACAC ACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAP_chr5_10674230_10766234	10675919	A A	ATCTTCCT others(30): Show ATCTTCCTGCTCTGGCTCATGAACTCACCCTCTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	372	0.0027	37	c.51 others(48): Show c.5136_*5137insCCCACAGAGGGTGAGTTCATGAGCCAGAGCAGGA AGA	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding		3310		chr5	TogoVar
DCAF5_chr14_69045881_69158119	69105944	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	244	0.0041	37	c.665 others(56): Show c.665+10421_665+10422insTATATATATATATATATATATATATA TATATATATAT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCBLD2_chr3_98790941_98906695	98870737	A A	AAAAGAAA others(30): Show AAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp1 NA18967.hp1 HG01243.hp2 HG02622.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0018 a0001c0002t0027 a0001c0002t0004 a0001c0002t0018 a0001c0002t0027	a0001c0002t0004g0064 a0001c0002t0018g0100 a0001c0002t0027g0050 a0001c0002t0004g0064 a0001c0002t0018g0100 a0001c0002t0027g0050	3	330	0.0091	37	c.433 others(56): Show c.433+10802_433+10803insCTTTCTTTCTTTCTTTTCTTTCTTTC TTTCTTTCTTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98870737	A A	AAAAGAAA others(30): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0052	1	330	0.0030	37	c.433 others(56): Show c.433+10802_433+10803insCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCTTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98870738	A A	AAAGAAAG others(30): Show AAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0006 a0001c0011t0002g0006	1	330	0.0030	37	c.433 others(56): Show c.433+10801_433+10802insCCTTTCTTTCTTTCTTTTCTTTCTTT CTTTCTTTCTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCC_chr18_52335197_53540899	53300972	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19043.hp2 HG02257.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0003 a0001c0002t0006g0009 a0001c0002t0006g0003 a0001c0002t0006g0009	2	114	0.0175	37	c.191 others(56): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCCTTTCTTTC TTTCTTTCTTT	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(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG04199.hp1 HG00733.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0001c0007 a0002c0001	a0001c0007t0003 a0002c0001t0002 a0001c0007t0003 a0002c0001t0002	a0001c0007t0003g0035 a0002c0001t0002g0089 a0001c0007t0003g0035 a0002c0001t0002g0089	2	114	0.0175	37	c.191 others(56): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24358899	A A	AATATATT others(30): Show AATATATTATATATTATATATTATATATATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03098.hp2 HG02622.hp2 HG03098.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0004 a0003c0003t0002 a0002c0002t0004 a0003c0003t0002	a0002c0002t0004g0150 a0003c0003t0002g0149 a0002c0002t0004g0150 a0003c0003t0002g0149	2	216	0.0093	37	c.-11 others(48): Show c.-1150_-1149insAATATATAATATATATAATATATAATATATAATA TAT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		841		chr6	TogoVar
DCDC2_chr6_24166755_24363059	24358914	A A	ATATATTA others(30): Show ATATATTATATATATTATATATTATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02559.hp2 HG00408.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0033 a0001c0001t0006 a0002c0002t0033	a0001c0001t0006g0117 a0002c0002t0033g0151 a0001c0001t0006g0117 a0002c0002t0033g0151	2	216	0.0093	37	c.-11 others(48): Show c.-1165_-1164insATATATATAATATATAATATATAATATATATAAT ATA	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		856		chr6	TogoVar
DCLRE1B_chr1_113900326_113919086	113908617	T T	TCGTGGTG others(30): Show TCGTGGTGGGATTGGGTGATGGGTATGGGGGGCGGGCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0114 a0001c0001t0019g0114	1	446	0.0022	37	c.538 others(52): Show c.538+426_538+427insCGTGGTGGGATTGGGTGATGGGTATGGGGG GCGGGCG	DCLRE1B	ENSG00000118655.8	transcript	ENST00000650450.2	protein_coding	3/3			chr1	TogoVar
DDX10_chr11_108660069_108945927	108837607	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	320	0.0031	37	c.196 others(54): Show c.1966-804_1966-803insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX10_chr11_108660069_108945927	108837642	T T	TTTTTTTT others(30): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	320	0.0031	37	c.196 others(54): Show c.1966-804_1966-803insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTA	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17			chr11	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	336	0.0030	37	c.58 others(48): Show c.5810_*5811insTATATATATATATATATATATATATATATATATA TAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX31_chr9_132587997_132674983	132672576	G G	GTAAGATG others(30): Show GTAAGATGAGACCAGTTTGTGGACTTGGAAGGTCGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0159 a0001c0005t0001g0159	1	402	0.0025	37	c.-26 others(48): Show c.-2679_-2643dupTACCGACCTTCCAAGTCCACAAACTGGTCTCATC TTA	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding		2594		chr9	TogoVar
DDX42_chr17_63769170_63824317	63789546	C C	CGTTTTTT others(30): Show CGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	332	0.0030	37	c.221 others(54): Show c.221+2276_221+2277insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding	2/17			chr17	TogoVar
DDX51_chr12_132131594_132149319	132134685	T T	TCCCCGAG others(30): Show TCCCCGAGTGTGCCCACGGTGCCCACTCCTCCTACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0006 a0020c0033t0006	a0020c0033t0006g0089 a0020c0033t0006g0089	1	334	0.0030	37	c.45 others(48): Show c.4586_*4587insGAGGTAGGAGGAGTGGGCACCGTGGGCACACTCG GGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1908		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134778	C C	CGCTCCTC others(30): Show CGCTCCTCCTACCTCCCCGAGTGTGCCCACGGTGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	37	c.44 others(48): Show c.4493_*4494insCGGGCACCGTGGGCACACTCGGGGAGGTAGGAGG AGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1815		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135074	T T	TCCCCGAG others(30): Show TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0018 a0002c0018t0018	a0002c0018t0018g0027 a0002c0018t0018g0027	1	334	0.0030	37	c.41 others(48): Show c.4197_*4198insGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCG GGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1519		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135792	C C	CACGGTGC others(30): Show CACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18982.hp2 NA18947.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	37	c.34 others(48): Show c.3479_*3480insTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCAC CGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		801		chr12	TogoVar
DEF6_chr6_35292818_35326771	35324918	A A	ACCCACCA others(30): Show ACCCACCACTTGGTTCATGCCTCTCTAGCCTTTGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	326	0.0031	37	c.35 others(48): Show c.3508_*3509insCCCACCACTTGGTTCATGCCTCTCTAGCCTTTGC CTC	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding		3148		chr6	TogoVar

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Search Results (Total: 3614 hits)