Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HRH3_chr20_62209960_62225278	62213414	G G	GGGAGGGA others(32): Show GGGAGGGAGACAGCGGGGATGGGGGAAGGGAGAGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	368	0.0027	39	c.25 others(50): Show c.2591_*2592insTCCCTGCTCTCCCTTCCCCCATCCCCGCTGTCTC CCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1545		chr20	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTTT others(32): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0016 a0002c0002t0005g0016	1	448	0.0022	39	c.-35 others(50): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL2_chr9_112375108_112477405	112476252	T T	TCCCCCCG others(32): Show TCCCCCCGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0200 a0001c0001t0019g0200	1	366	0.0027	39	c.57 others(50): Show c.5708_*5709insCCCCCCGCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCC	HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding		3848		chr9	TogoVar
HSF1_chr8_144286604_144319720	144313723	G G	GCGCCGCC others(32): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp2 HG03471.hp1 others(1): Show HG01884.hp2 HG02818.hp2 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0001g0168 a0001c0001t0001g0178	4	330	0.0121	39	c.124 others(56): Show c.1248+108_1248+109insGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCGCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18953.hp1 NA18939.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0050 a0001c0001t0003 a0001c0001t0050	a0001c0001t0003g0096 a0001c0001t0050g0121 a0001c0001t0003g0096 a0001c0001t0050g0121	2	364	0.0055	39	c.909 others(56): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HTR2C_chrX_114579086_114915061	114807165	C C	CATGTATG others(32): Show CATGTATGTATACACCATATATATACCATGTATGTATACA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	176	0.0057	39	c.350 others(58): Show c.350-40838_350-40837insATGTATGTATACACCATATATATACC ATGTATGTATACA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
HTR3B_chr11_113899796_113954079	113926482	C C	CCTTTCCT others(32): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0065 a0006c0012t0065	a0006c0012t0065g0030 a0006c0012t0065g0030	1	418	0.0024	39	c.214 others(56): Show c.214-4900_214-4862dupTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTC	HTR3B	ENSG00000149305.8	transcript	ENST00000260191.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
HUS1B_chr6_650939_662100	658629	A A	AATATATA others(32): Show AATATATATATATATTTTATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0017 a0017	a0017c0007 a0017c0007	a0017c0007t0001 a0017c0007t0001	a0017c0007t0001g0000 a0017c0007t0001g0000	1	432	0.0023	39	c.-16 others(50): Show c.-1686_-1685insATATATATATATATATATATATAAAATATATATA TATAT	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1530		chr6	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0126 a0003c0008t0008g0126	1	174	0.0058	39	c.884 others(56): Show c.8849+803_8849+804insAAAAATATATATATATATATATATATAT ATATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0283 a0001c0001t0006g0283	1	330	0.0030	39	c.-7- others(56): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATATATAT	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(32): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	360	0.0028	39	c.667 others(56): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(32): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp2 HG03041.hp1 HG02015.hp1 HG02083.hp2 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0150 a0002c0002t0001g0352 a0002c0002t0001g0099 a0002c0002t0001g0150 a0002c0002t0001g0352	3	360	0.0083	39	c.667 others(56): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(32): Show CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02572.hp1 HG01175.hp2 HG02572.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0007 a0005c0005t0003 a0002c0002t0007 a0005c0005t0003	a0002c0002t0007g0217 a0005c0005t0003g0290 a0002c0002t0007g0217 a0005c0005t0003g0290	2	360	0.0056	39	c.667 others(56): Show c.667+5418_667+5419insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(32): Show CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01978.hp1 HG02148.hp2 others(1): Show HG01106.hp2 HG01978.hp1 HG02148.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 others(1): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013	a0002c0002t0001g0281 a0002c0002t0005g0282 a0002c0002t0008g0026 others(1): Show a0002c0002t0001g0281 a0002c0002t0005g0282 a0002c0002t0008g0026 a0002c0002t0013g0008	4	360	0.0111	39	c.667 others(56): Show c.667+5418_667+5419insCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995268	T T	TTCTTCTT others(32): Show TTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0253 a0006c0006t0009g0253	1	360	0.0028	39	c.667 others(56): Show c.667+5450_667+5451insCTCTTCTTCTTCTTCTTCCTCTTCTTCT TCTTCTTCTTC	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFFO2_chr1_18899280_18961676	18925894	T T	TGGATGGT others(32): Show TGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	376	0.0027	39	c.666 others(56): Show c.666-4774_666-4773insTCCATCCATCCATCCATCCATCCATCCA TCCAACCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925894	T T	TGGTTGGA others(32): Show TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02258.hp1 others(9): Show HG01109.hp1 HG02055.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0020 a0001c0001t0022 a0001c0001t0061 a0001c0001t0062	a0001c0001t0001g0090 a0001c0001t0004g0080 a0001c0001t0004g0083 others(9): Show a0001c0001t0001g0090 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0089 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0117 a0001c0001t0008g0081 a0001c0001t0020g0091 a0001c0001t0022g0372 a0001c0001t0061g0367 a0001c0001t0062g0368	12	376	0.0319	39	c.666 others(56): Show c.666-4774_666-4773insTCCATCCATCCATCCATCCATCCATCCA TCCATCCAACC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFITM3_chr11_314676_325860	321821	C C	CTGTAGTG others(32): Show CTGTAGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03579.hp2 HG01891.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	31	0.0645	39	c.-10 others(50): Show c.-1009_-1008insCTGAAGGTAATGGGATAATCCGGCTGCCTGGGCA CTACA	IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding		962		chr11	TogoVar
IFITM3_chr11_314676_325860	322174	G G	GTGGTGCC others(32): Show GTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03579.hp2 HG01891.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	31	0.0645	39	c.-14 others(50): Show c.-1400_-1362dupTAGTGAAGGTAATGGGATAATCCAGCTGCCTGGG CACCA	IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding		1315		chr11	TogoVar
IFITM3_chr11_314676_325860	322369	G G	GTGGTGCC others(32): Show GTGGTGCCCAGGCAGCTGGATTATCCCATTACCTTCACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03579.hp2 HG01891.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	31	0.0645	39	c.-15 others(50): Show c.-1595_-1557dupTAGTGAAGGTAATGGGATAATCCAGCTGCCTGGG CACCA	IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding		1510		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322419	A A	ATATACGG others(32): Show ATATACGGAATATATATATGGAATATATATATGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	323	0.0031	39	c.-26 others(50): Show c.-2637_-2636insTATACGGAATATATATATGGAATATATATATGGA ATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2550		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322454	A A	ATATATAT others(32): Show ATATATATATGGTATATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	323	0.0031	39	c.-26 others(50): Show c.-2602_-2601insTATATATATGGTATATATATATGGAATATATATA TATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2515		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322968	T T	TATATATA others(32): Show TATATATATGGAATATATATATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0128 a0001c0001t0043g0128	1	323	0.0031	39	c.-20 others(50): Show c.-2088_-2087insATATATATGGAATATATATATGGAATATATATAT ATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2001		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323428	G G	GATGGAAT others(32): Show GATGGAATATATATATGGAATATAGAGATGGAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	323	0.0031	39	c.-16 others(50): Show c.-1628_-1627insATGGAATATATATATGGAATATAGAGATGGAATA TATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1541		chr21	TogoVar
IFT80_chr3_160251986_160404225	160312757	T T	TATAAATG others(32): Show TATAAATGTATATTATATATAAATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp2 HG02258.hp1 others(8): Show HG01433.hp1 HG02109.hp2 HG02258.hp1 HG02523.hp1 HG02622.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 NA18906.hp1 NA19240.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0007 a0001c0001 a0001c0008 a0005c0007	a0001c0001t0001 a0001c0008t0001 a0005c0007t0001 a0001c0001t0001 a0001c0008t0001 a0005c0007t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(8): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0008t0001g0164 a0005c0007t0001g0137	11	212	0.0519	39	c.958 others(56): Show c.958-5015_958-4977dupTATATATATATTATATATTTATATATAA TATACATTTAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	9/19			chr3	TogoVar
IGF1R_chr15_98643539_98969530	98674977	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0196 a0001c0001t0091g0196	1	210	0.0048	39	c.94+ others(56): Show c.94+25326_94+25327insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(32): Show GCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03490.hp1 HG03492.hp1 others(2): Show HG01934.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0253 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0253 a0001c0001t0024g0093 a0001c0001t0024g0103	5	360	0.0139	39	c.221 others(58): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GCAGCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(32): Show GCTGCTGCTGCTTCTTCTTCTTCCTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0244 a0001c0001t0055g0244	1	360	0.0028	39	c.221 others(58): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAGGAAGAAGAA GAAGCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(32): Show GCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp2 HG01978.hp2 others(2): Show HG01975.hp1 HG01975.hp2 HG01978.hp2 NA19075.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0039 others(2): Show a0001c0001t0001 a0001c0001t0027 a0001c0001t0039 a0001c0001t0046 a0001c0001t0065	a0001c0001t0001g0063 a0001c0001t0027g0125 a0001c0001t0039g0133 others(2): Show a0001c0001t0001g0063 a0001c0001t0027g0125 a0001c0001t0039g0133 a0001c0001t0046g0149 a0001c0001t0065g0349	5	360	0.0139	39	c.221 others(58): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(32): Show GCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02258.hp1 NA19030.hp1 others(1): Show HG02135.hp1 HG02258.hp1 NA19030.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0108 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0108 a0001c0001t0006g0258	4	360	0.0111	39	c.221 others(58): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTTCTTC others(32): Show GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp1 HG02165.hp2 others(4): Show HG02071.hp1 HG02155.hp1 HG02165.hp2 HG02723.hp1 NA18941.hp1 NA18970.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0062 a0001c0001t0002 a0001c0001t0004 a0001c0001t0062	a0001c0001t0002g0269 a0001c0001t0004g0062 a0001c0001t0004g0295 others(4): Show a0001c0001t0002g0269 a0001c0001t0004g0062 a0001c0001t0004g0295 a0001c0001t0004g0314 a0001c0001t0004g0317 a0001c0001t0004g0324 a0001c0001t0062g0254	7	360	0.0194	39	c.221 others(58): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP2_chr3_185638130_185830042	185665329	G G	GAGGAGGA others(32): Show GAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02148.hp1 others(13): Show HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG03209.hp2 HG03471.hp1 HG03579.hp2 HG03927.hp2 NA18522.hp1 NA18747.hp2 NA19030.hp2 NA19082.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0027 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0103 a0001c0001t0001g0208 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0103 a0001c0001t0001g0208 a0001c0001t0002g0034 a0001c0001t0003g0004 a0001c0001t0003g0091 a0001c0001t0003g0149 a0001c0001t0004g0006 a0001c0001t0004g0052 a0001c0001t0004g0059 a0001c0001t0005g0019 a0001c0001t0006g0072 a0001c0001t0013g0075 a0001c0001t0014g0053 a0001c0001t0027g0068 a0002c0003t0001g0020	16	216	0.0741	39	c.120 others(58): Show c.1201-6921_1201-6920insTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	10/15			chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0014 a0002c0003t0002g0014	1	196	0.0051	39	c.56+ others(54): Show c.56+2797_56+2798insATATATATATATATATATATATATTTTTTT TTTTTTTTT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0013	1	196	0.0051	39	c.56+ others(54): Show c.56+2797_56+2798insATATATATATATATATATATTTTTTTTTTT TTTTTTTTT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IKZF3_chr17_39752718_39869312	39811249	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0132 a0001c0001t0020g0132	1	256	0.0039	39	c.163 others(58): Show c.163+18137_163+18138insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	3/7			chr17	TogoVar
IK_chr5_140642829_140667480	140660292	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	380	0.0026	39	c.135 others(56): Show c.1355+119_1355+120insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	IK	ENSG00000113141.19	transcript	ENST00000417647.7	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL11_chr19_55359382_55375463	55361662	T T	TCAGACCC others(32): Show TCAGACCCAGGAGAGTTCAGACTGCCAGCCCTTCACCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	352	0.0028	39	c.43 others(50): Show c.4344_*4345insGAGGGTGAAGGGCTGGCAGTCTGAACTCTCCTGG GTCTG	IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding		2719		chr19	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAC others(32): Show ATATATACATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0017 a0002c0006t0017	a0002c0006t0017g0298 a0002c0006t0017g0298	1	342	0.0029	39	c.313 others(58): Show c.313-16608_313-16607insATATACATATATATATATATATATAT ATATATATATTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAC others(32): Show ATATATACATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0279 a0001c0002t0006g0279	1	342	0.0029	39	c.313 others(58): Show c.313-16608_313-16607insATATACATATATATATATATATATAT ATATATATTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAC others(32): Show ATATATACATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0301 a0001c0002t0003g0301	1	342	0.0029	39	c.313 others(58): Show c.313-16608_313-16607insATATACATATATATATATATATATAT ATATATTTTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(32): Show ATATATATACATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18945.hp1 HG00544.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0276 a0001c0002t0003g0287 a0001c0002t0003g0276 a0001c0002t0003g0287	2	342	0.0059	39	c.313 others(58): Show c.313-16608_313-16607insATATATACATATATATATATATATAT ATATATATATTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(32): Show ATATATATACATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18997.hp2 NA19003.hp1 others(1): Show NA18973.hp1 NA18997.hp2 NA19003.hp1 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0268 a0001c0002t0003g0273 a0001c0002t0003g0277 others(1): Show a0001c0002t0003g0268 a0001c0002t0003g0273 a0001c0002t0003g0277 a0001c0002t0003g0306	4	342	0.0117	39	c.313 others(58): Show c.313-16608_313-16607insATATATACATATATATATATATATAT ATATATATTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(32): Show ATATATATATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18939.hp1 HG02083.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0323 a0001c0002t0005g0253 a0001c0002t0003g0323 a0001c0002t0005g0253	2	342	0.0059	39	c.313 others(58): Show c.313-16608_313-16607insATATATATACATATATATATATATAT ATATATATATATT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL17B_chr5_149369267_149384292	149370033	T T	TTTTTTTT others(32): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA19065.hp2 HG02015.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	386	0.0052	39	c.43 others(50): Show c.4335_*4336insGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAA	IL17B	ENSG00000127743.6	transcript	ENST00000261796.4	protein_coding		4233		chr5	TogoVar
IL17RA_chr22_17080000_17120693	17104234	T T	TGTGGTGT others(32): Show TGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00609.hp1 others(57): Show HG00280.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01256.hp1 HG01258.hp2 HG01516.hp2 HG01891.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02135.hp2 HG02258.hp2 HG02622.hp2 HG02683.hp2 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18947.hp2 NA18954.hp2 NA18956.hp2 NA18970.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19084.hp1 NA19086.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0018	a0001c0001 a0001c0006 a0001c0036 others(6): Show a0001c0001 a0001c0006 a0001c0036 a0002c0003 a0002c0009 a0002c0015 a0003c0002 a0008c0010 a0018c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0037 a0001c0001t0043 a0001c0001t0090 a0001c0001t0099 a0001c0001t0100 a0001c0001t0103 a0001c0006t0007 a0001c0006t0019 a0001c0006t0094 a0001c0006t0095 a0001c0006t0098 a0001c0036t0091 a0002c0003t0008 a0002c0003t0017 a0002c0003t0020 a0002c0003t0026 a0002c0003t0032 a0002c0003t0056 a0002c0003t0057 a0002c0003t0058 a0002c0003t0060 a0002c0003t0108 a0002c0009t0021 a0002c0015t0020 a0003c0002t0003 a0008c0010t0041 a0008c0010t0062 a0018c0017t0059	a0001c0001t0002g0296 a0001c0001t0003g0159 a0001c0001t0005g0076 others(52): Show a0001c0001t0002g0296 a0001c0001t0003g0159 a0001c0001t0005g0076 a0001c0001t0007g0282 a0001c0001t0019g0041 a0001c0001t0037g0014 a0001c0001t0043g0030 a0001c0001t0090g0367 a0001c0001t0099g0251 a0001c0001t0100g0386 a0001c0001t0103g0183 a0001c0006t0007g0005 a0001c0006t0007g0120 a0001c0006t0007g0170 a0001c0006t0007g0171 a0001c0006t0007g0238 a0001c0006t0007g0278 a0001c0006t0007g0287 a0001c0006t0007g0299 a0001c0006t0007g0304 a0001c0006t0007g0377 a0001c0006t0019g0031 a0001c0006t0019g0086 a0001c0006t0019g0102 a0001c0006t0094g0281 a0001c0006t0095g0316 a0001c0006t0098g0181 a0001c0036t0091g0289 a0002c0003t0008g0010 a0002c0003t0008g0204 a0002c0003t0008g0223 a0002c0003t0008g0236 a0002c0003t0017g0011 a0002c0003t0017g0189 a0002c0003t0017g0276 a0002c0003t0017g0351 a0002c0003t0020g0121 a0002c0003t0020g0123 a0002c0003t0020g0261 a0002c0003t0026g0024 a0002c0003t0026g0055 a0002c0003t0032g0208 a0002c0003t0032g0264 a0002c0003t0056g0279 a0002c0003t0057g0320 a0002c0003t0058g0391 a0002c0003t0060g0147 a0002c0003t0108g0114 a0002c0009t0021g0389 a0002c0015t0020g0124 a0003c0002t0003g0321 a0008c0010t0041g0103 a0008c0010t0041g0104 a0008c0010t0062g0154 a0018c0017t0059g0173	60	416	0.1442	39	c.847 others(54): Show c.847-488_847-450dupGTGTGGCTGGGAGTGGGGAGCGTGCACAGG TGGAGAGTG	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RD_chr3_57084982_57170353	57105552	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0319 a0002c0007t0009g0319	1	354	0.0028	39	c.747 others(54): Show c.747+304_747+305insATATATATATATATATATATATATATATAT ATATTTTTT	IL17RD	ENSG00000144730.19	transcript	ENST00000296318.12	protein_coding	7/12			chr3	TogoVar
IL1RAPL1_chrX_28582446_29961718	29918144	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	135	0.0074	39	c.911 others(54): Show c.911+549_911+550insAAAAAAAAAAATATATATATATATATATAT ATATATATA	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104855681	G G	GTGTTTTT others(32): Show GTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	141	0.0071	39	c.82+ others(58): Show c.82+196687_82+196688insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RL1_chr2_102306563_102357037	102311873	T T	TTATATAA others(32): Show TTATATAATATAATTATATAATATATATTATATAATATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0177 a0002c0005t0003g0177	1	348	0.0029	39	c.-15 others(56): Show c.-150+263_-150+264insTATATAATATATATTATATAATATAATA TATAATATAAT	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
IL20RA_chr6_136994971_137049965	137045834	T T	TTTGTTGA others(32): Show TTTGTTGAACGAGCCGTCTCGTTAGCCCAGCTGAGTGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0222 a0002c0002t0003g0222	1	332	0.0030	39	c.-11 others(50): Show c.-1107_-1106insCTGCACTCAGCTGGGCTAACGAGACGGCTCGTTC AACAA	IL20RA	ENSG00000016402.14	transcript	ENST00000316649.10	protein_coding		870		chr6	TogoVar

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Search Results (Total: 3425 hits)