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
IFT81_chr12_110119357_110223793	110179773	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	218	0.0046	22	c.118 others(39): Show c.1189-648_1189-647insTATATATATATACACACACACA	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
IFT81_chr12_110119357_110223793	110179773	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	218	0.0046	22	c.118 others(39): Show c.1189-648_1189-647insTATATATATATATACACACACA	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
IFT88_chr13_20562157_20696444	20597754	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03017.hp2 HG03927.hp2 others(1): Show HG02602.hp1 HG03017.hp2 HG03927.hp2 HG04184.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0169 a0005c0006t0001g0170 a0005c0006t0001g0171 others(1): Show a0005c0006t0001g0169 a0005c0006t0001g0170 a0005c0006t0001g0171 a0005c0006t0001g0172	4	308	0.0130	22	c.594 others(37): Show c.594+651_594+652insATATATATATATATATATATAT	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding	9/25		INFO_REALIGN_3_PRIME	chr13	TogoVar
IFT88_chr13_20562157_20696444	20674724	A A	ATATTTTT others(15): Show ATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	308	0.0033	22	c.224 others(41): Show c.2242+3686_2242+3687insATTTTTTTTTTTTTTTTTTTTT	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr13	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(15): Show CATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	358	0.0028	22	c.20 others(33): Show c.2073_*2074insATATATATATATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IGBP1_chrX_70128447_70171324	70154714	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp1 HG03831.hp2 others(1): Show HG02280.hp1 HG02818.hp1 HG03831.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0152 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0152 a0001c0001t0001g0168 a0001c0001t0001g0188	4	245	0.0163	22	c.871 others(39): Show c.871+4393_871+4414dupAAAAAAAAAAAAAAAAAAAAAA	IGBP1	ENSG00000089289.16	transcript	ENST00000356413.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
IGF1R_chr15_98643539_98969530	98674977	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0074 a0001c0001t0016 a0001c0001t0074	a0001c0001t0016g0096 a0001c0001t0074g0075 a0001c0001t0016g0096 a0001c0001t0074g0075	2	210	0.0095	22	c.94+ others(39): Show c.94+25305_94+25326dupTTTTTTTTTTTTTTTTTTTTTT	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1R_chr15_98643539_98969530	98835080	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0075 a0001c0017t0075	a0001c0017t0075g0159 a0001c0017t0075g0159	1	210	0.0048	22	c.641 others(41): Show c.641-56236_641-56215dupACACACACACACACACACACAC	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1R_chr15_98643539_98969530	98835107	A A	ACACCCCT others(15): Show ACACCCCTACACCCACACACACC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02257.hp1 HG02559.hp2 others(14): Show HG00735.hp1 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0015 a0001c0022 a0001c0023	a0001c0001t0012 a0001c0001t0016 a0001c0001t0069 others(13): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0069 a0001c0001t0074 a0001c0001t0139 a0001c0001t0150 a0001c0001t0154 a0001c0002t0025 a0001c0002t0152 a0001c0002t0153 a0001c0006t0008 a0001c0006t0065 a0001c0008t0009 a0001c0015t0119 a0001c0022t0101 a0001c0023t0070	a0001c0001t0012g0005 a0001c0001t0016g0095 a0001c0001t0016g0096 others(14): Show a0001c0001t0012g0005 a0001c0001t0016g0095 a0001c0001t0016g0096 a0001c0001t0069g0079 a0001c0001t0074g0075 a0001c0001t0139g0063 a0001c0001t0150g0186 a0001c0001t0154g0189 a0001c0002t0025g0208 a0001c0002t0152g0187 a0001c0002t0153g0188 a0001c0006t0008g0101 a0001c0006t0065g0001 a0001c0008t0009g0206 a0001c0015t0119g0062 a0001c0022t0101g0169 a0001c0023t0070g0093	17	210	0.0810	22	c.641 others(41): Show c.641-56176_641-56155dupACCCACCCCTACACCCACACAC	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1R_chr15_98643539_98969530	98888438	A A	AGAGAGTG others(15): Show AGAGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0200 a0001c0001t0027g0200	1	210	0.0048	22	c.641 others(39): Show c.641-2886_641-2885insAGAGTGTGTGTGTGTGTGTGTG	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1R_chr15_98643539_98969530	98952303	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0002 a0001c0001t0064g0002	1	210	0.0048	22	c.372 others(41): Show c.3722+3602_3722+3623dupACACACACACACACACACACAC	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp1 HG03130.hp2 others(1): Show HG02647.hp2 HG03130.hp1 HG03130.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0002g0177 others(1): Show a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0002g0177 a0001c0001t0016g0178	4	360	0.0111	22	c.221 others(39): Show c.221-8547_221-8546insTATATATATATATATATATATA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP1_chr17_48992385_49061145	48999923	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18973.hp2 HG01106.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0017 a0001c0001t0004g0018	2	318	0.0063	22	c.236 others(37): Show c.236+773_236+794dupGTGTGTGTGTGTGTGTGTGTGT	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
IGF2BP1_chr17_48992385_49061145	49019904	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	318	0.0031	22	c.237 others(39): Show c.237-5690_237-5669dupATATATATATATATATATATAT	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
IGF2BP1_chr17_48992385_49061145	49019938	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02015.hp1 HG02074.hp2 others(1): Show HG00558.hp1 HG02015.hp1 HG02074.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0046 a0001c0001t0048 others(1): Show a0001c0001t0004 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050	a0001c0001t0004g0290 a0001c0001t0046g0005 a0001c0001t0048g0020 others(1): Show a0001c0001t0004g0290 a0001c0001t0046g0005 a0001c0001t0048g0020 a0001c0001t0050g0030	4	318	0.0126	22	c.237 others(39): Show c.237-5669_237-5668insATATATATATTTATATATATAT	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
IGF2BP1_chr17_48992385_49061145	49057482	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0315 a0001c0001t0027g0315	1	318	0.0031	22	c.80 others(33): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAAA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding		1338		chr17	TogoVar
IGF2BP1_chr17_48992385_49061145	49059984	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(2): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG02040.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0051	a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0003g0270 others(2): Show a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0003g0270 a0001c0001t0005g0312 a0001c0001t0051g0182	5	318	0.0157	22	c.10 others(35): Show c.10540_*10541insAAAAAAAAAAAAAAAAAAAAAA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding		3840		chr17	TogoVar
IGF2BP1_chr17_48992385_49061145	49059984	C C	CAAAAAAA others(15): Show CAAAAAAAAAAGAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01978.hp1 HG02293.hp1 others(1): Show HG00738.hp1 HG01978.hp1 HG02293.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0292 a0001c0001t0001g0294 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0297	4	318	0.0126	22	c.10 others(35): Show c.10540_*10541insAAAAAAAAAAGAAAAAAAAAAA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding		3840		chr17	TogoVar
IGF2BP1_chr17_48992385_49061145	49060466	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0156 a0001c0003t0028g0156	1	318	0.0031	22	c.11 others(35): Show c.11022_*11023insTTTTTTTTTTTTTTTTTTTTTT	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding		4322		chr17	TogoVar
IGF2BP2_chr3_185638130_185830042	185677044	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19004.hp1 HG02809.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0007g0156 a0001c0001t0001g0011 a0001c0001t0007g0156	2	216	0.0093	22	c.813 others(39): Show c.813-1153_813-1132dupATATATATATATATATATATAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15			chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18960.hp2 HG03195.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0010 a0001c0001t0011	a0001c0001t0010g0199 a0001c0001t0011g0073 a0001c0001t0010g0199 a0001c0001t0011g0073	2	216	0.0093	22	c.813 others(39): Show c.813-1156_813-1155insCTCTCTCTCTCTCTCTATATAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15			chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18954.hp1 NA18995.hp2 others(1): Show HG02818.hp1 NA18954.hp1 NA18995.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0001 a0001c0001t0002g0201 a0001c0001t0010g0022 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0201 a0001c0001t0010g0022 a0001c0001t0011g0196	4	216	0.0185	22	c.813 others(39): Show c.813-1156_813-1155insCTCTCTCTCTCTATATATATAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15			chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18968.hp1 HG04184.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0200 a0001c0001t0005g0166 a0001c0001t0002g0200 a0001c0001t0005g0166	2	216	0.0093	22	c.813 others(39): Show c.813-1156_813-1155insCTCTCTCTCTATATATATATAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15			chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(15): Show TATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG01192.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0091 a0001c0001t0006g0063 a0001c0001t0003g0091 a0001c0001t0006g0063	2	216	0.0093	22	c.813 others(39): Show c.813-1156_813-1155insCTCTCTCTATATATATATATAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15			chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(15): Show TATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02622.hp1 HG02056.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0085 a0001c0001t0004g0205 a0001c0001t0001g0085 a0001c0001t0004g0205	2	216	0.0093	22	c.813 others(39): Show c.813-1156_813-1155insCTCTCTATATATATATATATAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15			chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185800718	A A	AAAAAAGA others(15): Show AAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG01071.hp2 others(20): Show HG00673.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG02015.hp2 HG02109.hp1 HG02148.hp1 HG02155.hp2 HG03139.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03942.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0030 a0001c0001t0032 a0002c0003t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 others(20): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0120 a0001c0001t0002g0034 a0001c0001t0002g0057 a0001c0001t0002g0090 a0001c0001t0002g0113 a0001c0001t0003g0039 a0001c0001t0003g0054 a0001c0001t0004g0056 a0001c0001t0005g0019 a0001c0001t0005g0035 a0001c0001t0005g0041 a0001c0001t0006g0047 a0001c0001t0030g0207 a0001c0001t0032g0021 a0002c0003t0001g0020	23	216	0.1065	22	c.239 others(41): Show c.239+22434_239+22435insCTTTCTTTCTTTCTTTCTTTTT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15			chr3	TogoVar
IGF2R_chr6_159964082_160116504	160012745	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp2 HG02258.hp1 others(2): Show HG00438.hp2 HG02040.hp2 HG02258.hp1 NA18977.hp1 NA18994.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0003 a0002c0052 others(1): Show a0001c0004 a0002c0003 a0002c0052 a0003c0058	a0001c0004t0003 a0001c0004t0051 a0002c0003t0008 others(2): Show a0001c0004t0003 a0001c0004t0051 a0002c0003t0008 a0002c0052t0008 a0003c0058t0076	a0001c0004t0003g0223 a0001c0004t0051g0178 a0002c0003t0008g0085 others(2): Show a0001c0004t0003g0223 a0001c0004t0051g0178 a0002c0003t0008g0085 a0002c0052t0008g0023 a0003c0058t0076g0070	5	310	0.0161	22	c.513 others(39): Show c.513+1979_513+1980insATATATATATATATATATATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160022013	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02698.hp2 HG02818.hp2 others(1): Show HG00621.hp1 HG02698.hp2 HG02818.hp2 NA18959.hp1	a0001 a0003 a0020 a0001 a0003 a0020	a0001c0001 a0003c0007 a0003c0012 others(1): Show a0001c0001 a0003c0007 a0003c0012 a0020c0064	a0001c0001t0002 a0003c0007t0004 a0003c0012t0009 others(1): Show a0001c0001t0002 a0003c0007t0004 a0003c0012t0009 a0020c0064t0068	a0001c0001t0002g0062 a0003c0007t0004g0074 a0003c0012t0009g0088 others(1): Show a0001c0001t0002g0062 a0003c0007t0004g0074 a0003c0012t0009g0088 a0020c0064t0068g0221	4	310	0.0129	22	c.514 others(39): Show c.514-2552_514-2531dupACACACACACACACACACACAC	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160065814	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0005 a0013c0019t0005	a0013c0019t0005g0118 a0013c0019t0005g0118	1	310	0.0032	22	c.411 others(39): Show c.4115+923_4115+944dupATATATATATATATATATATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160065814	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03471.hp1 HG00323.hp1 HG03471.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0043 a0001c0001 a0008c0043	a0001c0001t0005 a0008c0043t0017 a0001c0001t0005 a0008c0043t0017	a0001c0001t0005g0119 a0008c0043t0017g0038 a0001c0001t0005g0119 a0008c0043t0017g0038	2	310	0.0065	22	c.411 others(39): Show c.4115+914_4115+915insGTATATATATATATATATATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160065814	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19060.hp2 HG03834.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0293 a0001c0001t0003g0307 a0001c0001t0002g0293 a0001c0001t0003g0307	2	310	0.0065	22	c.411 others(39): Show c.4115+914_4115+915insGTGTGTATATATATATATATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160065814	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02451.hp1 HG02451.hp2 others(4): Show HG00323.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG03471.hp2 NA19000.hp2 NA19007.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0012 a0001c0001 a0001c0002 a0003c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0043 a0001c0002t0082 a0003c0012t0006	a0001c0001t0001g0304 a0001c0001t0006g0219 a0001c0001t0006g0274 others(4): Show a0001c0001t0001g0304 a0001c0001t0006g0219 a0001c0001t0006g0274 a0001c0001t0010g0157 a0001c0001t0043g0036 a0001c0002t0082g0007 a0003c0012t0006g0284	7	310	0.0226	22	c.411 others(39): Show c.4115+914_4115+915insGTGTGTGTATATATATATATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160065814	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0023 a0001c0009t0023	a0001c0009t0023g0131 a0001c0009t0023g0131	1	310	0.0032	22	c.411 others(39): Show c.4115+914_4115+915insGTGTGTGTGTATATATATATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGFBP2_chr2_216628420_216669436	216631629	C C	CTCTCTCT others(15): Show CTCTCTCTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02818.hp1 NA19030.hp1 HG01109.hp2 HG02818.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0134 a0001c0001t0003g0144 a0001c0001t0001g0002 a0001c0001t0001g0134 a0001c0001t0003g0144	3	402	0.0075	22	c.-18 others(33): Show c.-1895_-1894insTCTCTCTGTGTGTGTGTGTGTG	IGFBP2	ENSG00000115457.10	transcript	ENST00000233809.9	protein_coding		1790		chr2	TogoVar
IGFBP2_chr2_216628420_216669436	216631629	C C	CTCTCTGT others(15): Show CTCTCTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	402	0.0025	22	c.-18 others(33): Show c.-1895_-1894insTCTCTGTGTGTGTGTGTGTGTG	IGFBP2	ENSG00000115457.10	transcript	ENST00000233809.9	protein_coding		1790		chr2	TogoVar
IGFBP2_chr2_216628420_216669436	216631629	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03225.hp2 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	402	0.0050	22	c.-18 others(33): Show c.-1895_-1894insTCTGTGTGTGTGTGTGTGTGTG	IGFBP2	ENSG00000115457.10	transcript	ENST00000233809.9	protein_coding		1790		chr2	TogoVar
IGFBP7_chr4_57025773_57115385	57108991	A A	ATTTCTTT others(15): Show ATTTCTTTGATTTGTATTGTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	346	0.0029	22	c.475 others(37): Show c.475+885_475+886insAAAACAATACAAATCAAAGAAA	IGFBP7	ENSG00000163453.11	transcript	ENST00000295666.6	protein_coding	1/4			chr4	TogoVar
IGFBPL1_chr9_38401528_38429454	38414033	T T	TCTCACAC others(15): Show TCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0147 a0002c0003t0012g0147	1	448	0.0022	22	c.570 others(35): Show c.570+60_570+61insTGTGTGTGTGTGTGTGTGTGAG	IGFBPL1	ENSG00000137142.5	transcript	ENST00000377694.2	protein_coding	2/4			chr9	TogoVar
IGFL4_chr19_46034182_46046002	46034734	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01169.hp1 HG02559.hp1 others(2): Show HG00597.hp2 HG01169.hp1 HG02559.hp1 NA18970.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	454	0.0110	22	c.51 others(33): Show c.5157_*5158insATATATATATATATATATATAT	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4447		chr19	TogoVar
IGFL4_chr19_46034182_46046002	46034740	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	454	0.0022	22	c.51 others(33): Show c.5151_*5152insATATATATATATATATATATAT	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4441		chr19	TogoVar
IGFL4_chr19_46034182_46046002	46034743	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	22	c.51 others(33): Show c.5148_*5149insAATATATATATATATATATATA	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4438		chr19	TogoVar
IGFL4_chr19_46034182_46046002	46034761	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	22	c.51 others(33): Show c.5130_*5131insAATATATATATATATATATATA	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4420		chr19	TogoVar
IGLL5_chr22_22882816_22901111	22899906	G G	GTCTGTCT others(15): Show GTCTGTCTGTCTGTCTGTCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0131 a0001c0001t0007g0131	1	302	0.0033	22	c.42 others(33): Show c.4212_*4213insTCTGTCTGTCTGTCTGTCTGTC	IGLL5	ENSG00000254709.8	transcript	ENST00000526893.6	protein_coding		3796		chr22	TogoVar
IGLON5_chr19_51306644_51335891	51322392	A A	AGGGACAG others(15): Show AGGGACAGAGACCCAGAGAGAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0315 a0001c0009t0008g0315	1	418	0.0024	22	c.158 others(37): Show c.158+261_158+282dupCCCAGAGAGAAGGGGACAGAGA	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IGLON5_chr19_51306644_51335891	51322403	C C	CCCAGAGA others(15): Show CCCAGAGAGAAGGGGACAGAGAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG03225.hp1 others(4): Show HG02723.hp2 HG02886.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0033	a0001c0001t0004g0282 a0001c0001t0007g0291 a0001c0001t0008g0071 others(4): Show a0001c0001t0004g0282 a0001c0001t0007g0291 a0001c0001t0008g0071 a0001c0001t0008g0081 a0001c0001t0009g0205 a0001c0001t0033g0284 a0001c0001t0033g0286	7	418	0.0168	22	c.158 others(37): Show c.158+332_158+353dupAGAGAAGGGGACAGAGATCCAG	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IGLON5_chr19_51306644_51335891	51328339	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0175 a0001c0001t0019g0175	1	418	0.0024	22	c.923 others(37): Show c.923-317_923-316insAAAAAAAAAAAAAAAAAAAAAA	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IGSF11_chr3_118895557_119039846	119029173	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03942.hp2 HG00738.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0040 a0002c0002t0002g0041	2	360	0.0056	22	c.52+ others(37): Show c.52+5336_52+5357dupGTGTGTGTGTGTGTGTGTGTGT	IGSF11	ENSG00000144847.13	transcript	ENST00000393775.7	protein_coding	1/6			chr3	TogoVar
IGSF21_chr1_18102798_18383483	18108985	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02970.hp1 HG03041.hp2 others(1): Show HG01496.hp2 HG02970.hp1 HG03041.hp2 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0003c0003t0009 a0001c0001t0001 a0003c0003t0002 a0003c0003t0009	a0001c0001t0001g0012 a0001c0001t0001g0013 a0003c0003t0002g0143 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0003c0003t0002g0143 a0003c0003t0009g0144	4	248	0.0161	22	c.70+ others(35): Show c.70+796_70+817dupGTGTGTGTGTGTGTGTGTGTGT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18208376	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01361.hp1 others(1): Show HG01256.hp2 HG01258.hp1 HG01361.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013	a0001c0001t0003g0159 a0001c0001t0004g0160 a0001c0001t0006g0185 others(1): Show a0001c0001t0003g0159 a0001c0001t0004g0160 a0001c0001t0006g0185 a0001c0001t0013g0093	4	248	0.0161	22	c.71- others(39): Show c.71-19502_71-19501insATATATATATATATATATATAT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18980.hp2 HG01168.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0077 a0001c0001t0008g0242 a0001c0001t0002g0077 a0001c0001t0008g0242	2	248	0.0081	22	c.71- others(37): Show c.71-2812_71-2811insTCTCTCTCTCACACACACACAC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results