Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CYTH3_chr7_6156779_6277624	6259772	T T	TAATATAT others(42): Show TAATATATATATATATATTATATATATATATATAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	143	0.0070	49	c.34+ others(66): Show c.34+12701_34+12702insTTATATATATATATATTATATATATATA TATAATATATATATATATATT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATAATAT others(42): Show TATAATATATATATATATTATATATATATATAATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0136 a0001c0001t0029g0136	1	143	0.0070	49	c.34+ others(66): Show c.34+12701_34+12702insTTATATATATATATATATTATATATATA TATAATATATATATATATTAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATAATAT others(42): Show TATAATATATATATATATTATATATATATATATAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	143	0.0070	49	c.34+ others(66): Show c.34+12701_34+12702insTTATATATATATATATTATATATATATA TATAATATATATATATATTAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241765855	G G	GTTGGGGA others(42): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGAAGAGGGGGGAGAAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0371 a0003c0008t0005g0371	1	405	0.0025	49	c.130 others(68): Show c.1307-1821_1307-1820insAAGAGGGGGGAGAACTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766125	G G	GGGCTGAG others(42): Show GGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0327 a0003c0003t0010g0327	1	410	0.0024	49	c.130 others(68): Show c.1307-1582_1307-1534dupCTGAGGGAGTAGGAAGAGGGGGGAGA AGTTGGGGAGATGGGAGCCCCGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766945	G G	GGGGGGAG others(42): Show GGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0138 a0002c0002t0005g0138	1	410	0.0024	49	c.130 others(66): Show c.1307-759_1307-711dupAGAAGTTGGGGAGATGGGAGCCCCGGGC TGAGGGAGTAGGAAGAGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241767371	C C	CCCCGGGC others(42): Show CCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0316 a0003c0003t0010g0316	1	410	0.0024	49	c.130 others(66): Show c.1307-335_1307-287dupGGGCTGAGGGAGTAGGAAGAGGGGGGAG AAGTTGGGGAGATGGGAGCCC	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAO_chr12_108875092_108906043	108903322	G G	GAAGGAAG others(42): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	372	0.0027	49	c.27 others(60): Show c.2787_*2788insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2280		chr12	TogoVar
DAPK1_chr9_87492867_87713634	87571474	C C	CACACACC others(42): Show CACACACCCCAACACACACACACACACACACCCCCCAACACACACACACA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	216	0.0046	49	c.63- others(66): Show c.63-33480_63-33479insACACACCCCAACACACACACACACACAC ACCCCCCAACACACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DCBLD2_chr3_98790941_98906695	98837300	A A	ACCCCCAC others(42): Show ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18994.hp2 NA19063.hp1 others(1): Show HG02080.hp1 NA18994.hp2 NA19063.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0107 a0001c0002t0015g0108 a0001c0002t0015g0109 others(1): Show a0001c0002t0015g0107 a0001c0002t0015g0108 a0001c0002t0015g0109 a0001c0002t0015g0110	4	84	0.0476	49	c.572 others(68): Show c.572-11935_572-11934insGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCC_chr18_52335197_53540899	53300972	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0025 a0001c0008t0025	a0001c0008t0025g0086 a0001c0008t0025g0086	1	103	0.0097	49	c.191 others(68): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTTCTTTCTTTCTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX1_chr2_15586868_15636101	15611480	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCTACCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	393	0.0025	49	c.957 others(66): Show c.957-1701_957-1700insTACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCC	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611544	C C	CGACTGGC others(42): Show CGACTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0197 a0001c0006t0004g0197	1	390	0.0026	49	c.957 others(66): Show c.957-1679_957-1678insACTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTG	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611544	C C	CGACTGGC others(42): Show CGACTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp1 HG03209.hp1 others(1): Show HG02717.hp2 HG02970.hp1 HG03209.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 a0001c0004 a0001c0006 a0001c0007	a0001c0004t0003 a0001c0006t0004 a0001c0007t0004 a0001c0004t0003 a0001c0006t0004 a0001c0007t0004	a0001c0004t0003g0195 a0001c0006t0004g0198 a0001c0007t0004g0046 a0001c0004t0003g0195 a0001c0006t0004g0198 a0001c0007t0004g0046	4	393	0.0102	49	c.957 others(66): Show c.957-1679_957-1678insACTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTG	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611573	G G	GACCTCCC others(42): Show GACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	344	0.0029	49	c.957 others(66): Show c.957-1617_957-1616insGGGGCTGACCCCCCTACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAG	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX1_chr2_15586868_15636101	15611656	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	278	0.0036	49	c.957 others(66): Show c.957-1551_957-1503dupGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCG	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DEFB124_chr20_31460471_31480127	31470056	G G	GGGCGGCT others(42): Show GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp2 HG01192.hp1 others(8): Show HG00323.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG02523.hp2 HG03139.hp2 HG04199.hp2 HG04204.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0091 a0001c0001t0002g0092 others(7): Show a0001c0001t0002g0029 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0135 a0001c0001t0002g0136	11	360	0.0306	49	c.58+ others(64): Show c.58+2899_58+2900insTTGTCCAGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470628	C C	CGGACAGG others(42): Show CGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00735.hp1 others(6): Show HG00408.hp2 HG00544.hp2 HG00735.hp1 HG01928.hp2 HG02280.hp2 HG02976.hp1 HG04115.hp2 HG04204.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0060 a0001c0001t0002g0063 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0002g0112	9	238	0.0378	49	c.58+ others(64): Show c.58+2327_58+2328insAGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCTGTCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470628	C C	CGGACAGG others(42): Show CGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	230	0.0043	49	c.58+ others(64): Show c.58+2327_58+2328insAGGAGGGAGGTGGGGGGGTCAGCCCCCCAC CCGGCCAGCCGCCCTGTCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470649	C C	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAGGGCAGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG02109.hp2 others(4): Show HG00741.hp1 HG01109.hp1 HG02109.hp2 HG02809.hp2 HG03041.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0087 others(3): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0087 a0001c0001t0002g0088 a0002c0003t0002g0022 a0002c0003t0002g0054	7	185	0.0378	49	c.58+ others(64): Show c.58+2306_58+2307insACCCGGCCAGCTGCCCTGTCCAGGAGGGAG GTGGGGGGGTCAGCCCCCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB124_chr20_31460471_31480127	31470649	C C	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(38): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01884.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02155.hp1 HG02523.hp2 HG02559.hp1 HG02735.hp2 HG02976.hp2 HG03098.hp2 HG03516.hp1 HG03540.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18977.hp1 NA19087.hp1 NA19090.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(23): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0006 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0127 a0001c0001t0003g0050	41	219	0.1872	49	c.58+ others(64): Show c.58+2306_58+2307insACCCGGCCAGCCGCCCTGTCCAGGAGGGAG GTGGGGGGGTCAGCCCCCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DENND6B_chr22_50304030_50332012	50307785	G G	GAGGGGGA others(42): Show GAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAGGGGGAGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0222 a0001c0003t0001g0222	1	318	0.0031	49	c.43 others(60): Show c.4353_*4354insTCCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCC CCCTCCCCTCCCCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1244		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316980	C C	CGGGGGGG others(42): Show CGGGGGGGGCCACGAGGACAGGGTGGGGGGGGGGGCGGCGAGGACAGGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0048 a0003c0007t0048	a0003c0007t0048g0009 a0003c0007t0048g0009	1	297	0.0034	49	c.453 others(64): Show c.453+312_453+313insATCCTGTCCTCGCCGCCCCCCCCCCCACCC TGTCCTCGTGGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317020	C C	CAGGGTGG others(42): Show CAGGGTGGGGGGGCGGCGAGGACAGGGCGGGGGGCCCCGAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18906.hp1 NA19240.hp2 HG02896.hp1 NA18906.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0014 a0002c0002t0006g0016 a0002c0002t0006g0017 a0002c0002t0006g0014 a0002c0002t0006g0016 a0002c0002t0006g0017	3	74	0.0405	49	c.453 others(64): Show c.453+272_453+273insCACCCTGTCCTCGGGGCCCCCCGCCCTGTC CTCGCCGCCCCCCCACCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DEPP1_chr10_44971128_44983809	44973234	A A	AGGGGGGG others(42): Show AGGGGGGGGGGGGCCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	49	c.41 others(60): Show c.4157_*4158insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CGGCCCCCCCCCCCC	DEPP1	ENSG00000165507.9	transcript	ENST00000298295.4	protein_coding		2893		chr10	TogoVar
DEPTOR_chr8_119868722_120055918	119887143	T T	TCCCCTCC others(42): Show TCCCCTCCCCCCCCTCCTCCCCTCCCCTCCCCCCCCTCCTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp1 HG01884.hp2 NA20300.hp1	a0002 a0004 a0002 a0004	a0002c0005 a0004c0006 a0002c0005 a0004c0006	a0002c0005t0003 a0004c0006t0009 a0002c0005t0003 a0004c0006t0009	a0002c0005t0003g0191 a0004c0006t0009g0194 a0002c0005t0003g0191 a0004c0006t0009g0194	2	185	0.0108	49	c.122 others(68): Show c.122+13177_122+13178insCCTCCCCCCCCTCCTCCCCTCCCCTC CCCCCCCTCCTCCCCTCCTCCCC	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(42): Show GGGTGGGGGGGTGGGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0087 a0001c0001t0013g0087	1	194	0.0052	49	c.67 others(60): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCCCCCCACCCCC CCCCACCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(42): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCTGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	35	0.0286	49	c.-28 others(60): Show c.-2845_-2844insGCATGCGCGCGCAGCGCGCGCACACACACACACA CACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14461324	T T	TTTTTTTT others(42): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0019 a0001c0006t0019	a0001c0006t0019g0144 a0001c0006t0019g0144	1	144	0.0069	49	c.183 others(70): Show c.1835+16836_1835+16837insGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233397027	G G	GGGGGCGC others(42): Show GGGGGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03579.hp2 HG02080.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0046 a0001c0002t0004 a0001c0004t0046	a0001c0002t0004g0244 a0001c0004t0046g0243 a0001c0002t0004g0244 a0001c0004t0046g0243	2	291	0.0069	49	c.348 others(66): Show c.348+6544_348+6545insGGGGCGCCAGAGTGAGAGGACTCCAGAG GGGACCAGGGTGGCTGGTAGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DGKD_chr2_233349494_233477098	233397165	G G	GCCAGAGC others(42): Show GCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0155 a0001c0001t0042g0155	1	329	0.0030	49	c.348 others(66): Show c.348+6682_348+6683insCCAGAGCGAGAGGACTCCAGAGGGGACC AGGGTGGCTGGGGGGGGGGGT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DGKG_chr3_186142201_186367234	186355198	C C	CACCACCA others(42): Show CACCACCAACACCACTATCGTCAACTCCCCACACAACTACCATCACCGCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA20752.hp1 NA18971.hp1 NA20752.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0006 a0002c0001 a0003c0006	a0002c0001t0004 a0003c0006t0013 a0002c0001t0004 a0003c0006t0013	a0002c0001t0004g0095 a0003c0006t0013g0098 a0002c0001t0004g0095 a0003c0006t0013g0098	2	232	0.0086	49	c.-24 others(68): Show c.-249+6699_-249+6747dupAGCGGTGATGGTAGTTGTGTGGGGAG TTGACGATAGTGGTGTTGGTGGT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKI_chr7_137376037_137851974	137616927	A A	AACCCCTA others(42): Show AACCCCTAATGCAATAACCAAAAAAAAGCACAACCAAGACAAAAAACCAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0045 a0001c0016t0045	a0001c0016t0045g0086 a0001c0016t0045g0086	1	92	0.0109	49	c.993 others(66): Show c.993+2896_993+2897insGTGGTTTTTTGTCTTGGTTGTGCTTTTT TTTGGTTATTGCATTAGGGGT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51775857	A A	ATGTATTC others(42): Show ATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	348	0.0029	49	c.363 others(66): Show c.363+1202_363+1203insATGTAGGAGAATACTGTAGAATACATGT AGGAGAATACTGTAGAATACA	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2228499	A A	ACTGCAGG others(42): Show ACTGCAGGGCGGGTCGGGCGGCGGGCGGAGGGCGGGCGGGCGGCCGGAGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0043 a0004c0004t0003g0043	1	48	0.0208	49	c.805 others(66): Show c.805-7271_805-7270insGCTCCGGCCGCCCGCCCGCCCTCCGCCC GCCGCCCGACCCGCCCTGCAG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97129089	A A	ATCTTTTC others(42): Show ATCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0147 a0001c0003t0003g0147	1	66	0.0152	49	c.259 others(70): Show c.2590-12574_2590-12526dupCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIDO1_chr20_62872743_62931505	62873171	G G	GAACAAGG others(42): Show GAACAAGGGGGAAGAGAAAGAACTGAGGAAGAAAGAGGGAGGCAGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	318	0.0031	49	c.60 others(60): Show c.6061_*6062insTGTCCCTGCCTCCCTCTTTCTTCCTCAGTTCTTT CTCTTCCCCCTTGTT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		4571		chr20	TogoVar
DIP2C_chr10_269201_694668	321531	G G	GGGGGCTC others(42): Show GGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	85	0.0118	49	c.392 others(68): Show c.3924+5474_3924+5475insGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCACTGGAGCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321604	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	84	0.0119	49	c.392 others(68): Show c.3924+5401_3924+5402insACGCCGGTCTCTCGCCGGACCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321689	C C	CGAGAGAC others(42): Show CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0033 a0001c0006t0002g0033	1	84	0.0119	49	c.392 others(68): Show c.3924+5316_3924+5317insACTGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAGCGCCGGTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321702	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	67	0.0149	49	c.392 others(68): Show c.3924+5303_3924+5304insACGCCGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321734	C C	CCGGCGAG others(42): Show CCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	81	0.0123	49	c.392 others(68): Show c.3924+5271_3924+5272insCACCCCCGCACCCCCGACTGACTGTT CTAACAGCGCCGGTCTCTCGCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321751	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	57	0.0175	49	c.392 others(68): Show c.3924+5254_3924+5255insACGCCGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321751	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCAGTGAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0006 a0001c0005t0002g0006	1	57	0.0175	49	c.392 others(68): Show c.3924+5254_3924+5255insACACTGGTCTCTCACTGGACCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321800	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGCGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	71	0.0141	49	c.392 others(68): Show c.3924+5205_3924+5206insACGCCGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321849	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGTGT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	60	0.0167	49	c.392 others(68): Show c.3924+5156_3924+5157insACACCGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321947	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0032 a0001c0014t0001g0032	1	64	0.0156	49	c.392 others(68): Show c.3924+5058_3924+5059insACACTGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	321981	G G	GGCGAGAG others(42): Show GGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	60	0.0167	49	c.392 others(68): Show c.3924+5024_3924+5025insTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACACTGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322128	G G	GGCGAGAG others(42): Show GGCGAGAGACCAGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	67	0.0149	49	c.392 others(68): Show c.3924+4877_3924+4878insTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACGCTGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322192	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	76	0.0132	49	c.392 others(68): Show c.3924+4813_3924+4814insACACTGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar

Search by Variant

Search

Search Results