Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
HTRA3_chr4_8264754_8312098	8294615	T T	TCCACCCA others(25): Show TCCACCCACCCACCCACCCACCCACCTATCCGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG02027.hp1 others(8): Show HG00423.hp1 HG02015.hp1 HG02027.hp1 HG02083.hp2 HG02523.hp2 HG02559.hp1 HG06807.hp2 NA18967.hp2 NA18973.hp1 NA18982.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0001g0202 a0001c0001t0002g0012 others(6): Show a0001c0001t0001g0117 a0001c0001t0001g0202 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0196 a0001c0001t0002g0271 a0001c0001t0002g0272	11	388	0.0284	32	c.105 others(49): Show c.1051+417_1051+418insCCCACCCACCCACCCACCCACCTATCCG CCCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUS1B_chr6_650939_662100	658645	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	432	0.0023	32	c.-17 others(43): Show c.-1702_-1701insTATATATATATATATATATATATATATATATA	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1546		chr6	TogoVar
HUWE1_chrX_53527096_53691719	53629903	T T	TTTGATGT others(25): Show TTTGATGTACATACTTGATGTACATCAAGTACA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01496.hp1 HG01258.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0116 a0001c0001t0001g0096 a0001c0001t0001g0116	2	214	0.0094	32	c.863 others(47): Show c.863-288_863-287insTGTACTTGATGTACATCAAGTATGTACATC AA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	12/83			chrX	TogoVar
HYCC2_chr2_200968718_201076671	201076484	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA19030.hp1 NA20752.hp1 HG02965.hp1 NA19030.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017	a0001c0001t0005g0019 a0001c0001t0013g0003 a0001c0001t0017g0149 a0001c0001t0005g0019 a0001c0001t0013g0003 a0001c0001t0017g0149	3	176	0.0171	32	c.-50 others(43): Show c.-5004_-5003insATATATATATATATATATATATATATATATAT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding		4814		chr2	TogoVar
HYDIN_chr16_70797084_71235722	70834959	T T	TACACACA others(25): Show TACACACATATATGTGTGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0003 a0002c0054t0003	a0002c0054t0003g0140 a0002c0054t0003g0140	1	174	0.0058	32	c.134 others(51): Show c.13401+716_13401+717insGTATATATATATATACACACATATAT GTGTGT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	78/85			chr16	TogoVar
IBA57_chr1_228160804_228187257	228174111	G G	GGCTGTGG others(25): Show GGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0134 a0001c0004t0134	a0001c0004t0134g0192 a0001c0004t0134g0192	1	416	0.0024	32	c.342 others(47): Show c.342-212_342-181dupGCTGTGGGCGTGGCTCGCTGTGGGCGTGGC TC	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02559.hp2 HG02896.hp1 others(4): Show HG02083.hp2 HG02559.hp2 HG02896.hp1 HG03195.hp1 HG03195.hp2 NA18906.hp2 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0002 a0002c0002t0002 a0004c0005t0002	a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0055 others(4): Show a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0055 a0002c0002t0002g0064 a0002c0002t0002g0099 a0002c0002t0002g0104 a0004c0005t0002g0164	7	296	0.0237	32	c.372 others(49): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAA others(25): Show TTATATAATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0068 a0001c0001t0013g0068	1	330	0.0030	32	c.-7- others(49): Show c.-7-18680_-7-18679insTATATATATATATATATATATATAATTA TATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp1 HG03098.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0027 a0001c0001t0006 a0001c0001t0027	a0001c0001t0006g0289 a0001c0001t0027g0294 a0001c0001t0006g0289 a0001c0001t0027g0294	2	330	0.0061	32	c.-7- others(49): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847703	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01256.hp1 others(5): Show HG00323.hp1 HG01074.hp1 HG01256.hp1 HG01257.hp1 HG02451.hp1 HG02886.hp2 NA18962.hp1 NA18978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 others(5): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0037 a0001c0001t0050 a0001c0001t0056 a0001c0001t0066 a0002c0002t0017	a0001c0001t0009g0102 a0001c0001t0014g0070 a0001c0001t0016g0118 others(5): Show a0001c0001t0009g0102 a0001c0001t0014g0070 a0001c0001t0016g0118 a0001c0001t0037g0052 a0001c0001t0050g0223 a0001c0001t0056g0047 a0001c0001t0066g0143 a0002c0002t0017g0326	8	330	0.0242	32	c.-7- others(49): Show c.-7-18688_-7-18687insCATATATATATATATATATATATATATA TATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1_chr7_8108184_8267167	8145764	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG04115.hp2 HG01169.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0225 a0001c0001t0001g0082 a0001c0001t0001g0225	2	274	0.0073	32	c.805 others(49): Show c.805-1793_805-1792insCATATATATATATATATATATATATATA TATA	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICAM2_chr17_63997595_64025633	64014330	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	392	0.0026	32	c.-45 others(49): Show c.-45+6192_-45+6193insTTTCTTTCTTTCTTTCTTTCTTTCCTTC CTTC	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
ICE1_chr5_5417677_5495220	5492980	A A	AGGAAGGA others(25): Show AGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG03209.hp1 HG02572.hp1 HG03209.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0055 a0002c0004t0001g0112 a0002c0004t0001g0055 a0002c0004t0001g0112	2	364	0.0055	32	c.36 others(43): Show c.3650_*3651insGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAG	ICE1	ENSG00000164151.12	transcript	ENST00000296564.9	protein_coding		2761		chr5	TogoVar
ICE1_chr5_5417677_5495220	5493004	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0050 a0002c0004t0001g0050	1	364	0.0028	32	c.36 others(43): Show c.3674_*3675insGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA	ICE1	ENSG00000164151.12	transcript	ENST00000296564.9	protein_coding		2785		chr5	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(25): Show TATTATATTATATATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	314	0.0032	32	c.661 others(49): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IDH3A_chr15_78144362_78176945	78158448	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0092 a0001c0002t0005g0092	1	386	0.0026	32	c.174 others(47): Show c.174+833_174+834insATATATATATATATATATATATATATATAT AT	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
IDH3A_chr15_78144362_78176945	78158463	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0198 a0001c0002t0005g0198	1	386	0.0026	32	c.174 others(47): Show c.174+833_174+834insATATATATATATATATATATATATATATAT TT	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
IDH3A_chr15_78144362_78176945	78158463	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0100 a0001c0002t0005g0100	1	386	0.0026	32	c.174 others(47): Show c.174+833_174+834insATATATATATATATATATATATATATATTT TT	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
IFFO2_chr1_18899280_18961676	18925964	A A	ATGGATGG others(25): Show ATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	376	0.0027	32	c.666 others(49): Show c.666-4844_666-4843insACCATCCATCCATCCATCCATCCATCCA TCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFI27L2_chr14_94122781_94134604	94124920	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG03017.hp2 HG00558.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	433	0.0046	32	c.28 others(43): Show c.2878_*2879insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IFI27L2	ENSG00000119632.4	transcript	ENST00000238609.4	protein_coding		2860		chr14	TogoVar
IFITM10_chr11_1727406_1755595	1754525	G G	GGGGATGT others(25): Show GGGGATGTGGGGATGGAGGGATGGAGGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 NA18974.hp2 HG02559.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0064 a0001c0001t0017g0094 a0001c0001t0003g0064 a0001c0001t0017g0094	2	406	0.0049	32	c.-40 others(43): Show c.-4084_-4083insTCCATCCCTCCATCCCTCCATCCCCACATCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3931		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33321382	T T	TATACATA others(25): Show TATACATATGTGGAACAAATACATATATGGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	323	0.0031	32	c.-36 others(43): Show c.-3674_-3673insATACATATGTGGAACAAATACATATATGGAAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3587		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321475	G G	GAACATAC others(25): Show GAACATACATATGTGGAACCAATACATATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG04115.hp1 NA18973.hp2 others(2): Show HG02109.hp2 HG04115.hp1 NA18973.hp2 NA19004.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0039g0084	5	323	0.0155	32	c.-35 others(43): Show c.-3581_-3580insAACATACATATGTGGAACCAATACATATATGC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3494		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321483	A A	ATATGTGG others(25): Show ATATGTGGAACCAATACATATATGCAACATACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	323	0.0031	32	c.-35 others(43): Show c.-3573_-3572insTATGTGGAACCAATACATATATGCAACATACC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3486		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321514	C C	CATATGTG others(25): Show CATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00621.hp2 others(46): Show HG00280.hp1 HG00597.hp1 HG00621.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01934.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02273.hp1 HG02683.hp2 HG02738.hp1 HG03195.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA18747.hp1 NA18942.hp1 NA18944.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp2 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19056.hp1 NA19057.hp1 NA19064.hp1 NA19068.hp2 NA19077.hp2 NA19080.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0029 a0001c0006t0028	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0008g0047 a0001c0001t0008g0081 a0001c0001t0008g0082 a0001c0001t0008g0094 a0001c0001t0029g0005 a0001c0006t0028g0099	49	323	0.1517	32	c.-35 others(43): Show c.-3542_-3541insATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3455		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321546	T T	TATATGTG others(25): Show TATATGTGGAACCAATACATATATGCAACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	323	0.0031	32	c.-35 others(43): Show c.-3510_-3509insATATGTGGAACCAATACATATATGCAACATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3423		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321667	C C	CAACATAT others(25): Show CAACATATGTATGTGGAACCAATACATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	323	0.0031	32	c.-33 others(43): Show c.-3389_-3388insAACATATGTATGTGGAACCAATACATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3302		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321763	C C	CAACATAT others(25): Show CAACATATATATGTGGAACCAATACATATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	323	0.0031	32	c.-32 others(43): Show c.-3293_-3292insAACATATATATGTGGAACCAATACATATATAG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3206		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322587	A A	ACGGAATA others(25): Show ACGGAATATATATATACGGAATATATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0098 a0001c0005t0013g0098	1	323	0.0031	32	c.-24 others(43): Show c.-2469_-2468insCGGAATATATATATACGGAATATATATATAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2382		chr21	TogoVar
IFNL2_chr19_39263396_39275188	39267335	C C	CTCTCTAT others(25): Show CTCTCTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	422	0.0024	32	c.-12 others(43): Show c.-1234_-1233insTCTCTATATATATATATATATATATATATATA	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		1060		chr19	TogoVar
IFNL2_chr19_39263396_39275188	39267335	C C	CTCTCTCT others(25): Show CTCTCTCTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0001 a0006c0005t0001g0001	1	422	0.0024	32	c.-12 others(43): Show c.-1234_-1233insTCTCTCTATATATATATATATATATATATATA	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		1060		chr19	TogoVar
IFNL3_chr19_39238553_39250006	39245644	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0007	1	390	0.0026	32	c.-67 others(41): Show c.-678_-677insATATATATATATATATATATATATATATATAT	IFNL3	ENSG00000197110.10	transcript	ENST00000413851.3	protein_coding		639		chr19	TogoVar
IFNLR1_chr1_24149168_24192289	24189194	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19012.hp2 NA19064.hp1 NA19005.hp1 NA19012.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0058 a0001c0001t0009g0006 a0001c0001t0009g0058	3	396	0.0076	32	c.-19 others(43): Show c.-1947_-1946insGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding		1906		chr1	TogoVar
IFT140_chr16_1505427_1617072	1592614	A A	AGGACAGG others(25): Show AGGACAGGTGTCCCGGCAGAGCGACTGGTGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02055.hp2 others(14): Show HG01109.hp2 HG01891.hp1 HG02055.hp2 HG02572.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1 NA21309.hp2	a0006 a0007 a0011 others(2): Show a0006 a0007 a0011 a0027 a0030	a0006c0007 a0007c0013 a0007c0060 others(3): Show a0006c0007 a0007c0013 a0007c0060 a0011c0012 a0027c0036 a0030c0058	a0006c0007t0003 a0007c0013t0001 a0007c0060t0001 others(3): Show a0006c0007t0003 a0007c0013t0001 a0007c0060t0001 a0011c0012t0003 a0027c0036t0003 a0030c0058t0001	a0006c0007t0003g0159 a0006c0007t0003g0160 a0006c0007t0003g0161 others(14): Show a0006c0007t0003g0159 a0006c0007t0003g0160 a0006c0007t0003g0161 a0006c0007t0003g0162 a0006c0007t0003g0164 a0006c0007t0003g0199 a0007c0013t0001g0191 a0007c0013t0001g0192 a0007c0013t0001g0193 a0007c0013t0001g0194 a0007c0060t0001g0195 a0011c0012t0003g0051 a0011c0012t0003g0052 a0011c0012t0003g0201 a0011c0012t0003g0202 a0027c0036t0003g0132 a0030c0058t0001g0163	17	334	0.0509	32	c.370 others(45): Show c.370-58_370-27dupCTCCACCAGTCGCTCTGCCGGGACACCTGTCC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1592969	C C	CGGCAGAG others(25): Show CGGCAGAGTGACTGGTGGAGGGACAGGTGTCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp2 HG02897.hp2 others(8): Show HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1 NA21309.hp2	a0006 a0011 a0030 a0006 a0011 a0030	a0006c0007 a0011c0012 a0030c0058 a0006c0007 a0011c0012 a0030c0058	a0006c0007t0003 a0011c0012t0003 a0030c0058t0001 a0006c0007t0003 a0011c0012t0003 a0030c0058t0001	a0006c0007t0003g0159 a0006c0007t0003g0160 a0006c0007t0003g0161 others(8): Show a0006c0007t0003g0159 a0006c0007t0003g0160 a0006c0007t0003g0161 a0006c0007t0003g0162 a0006c0007t0003g0164 a0006c0007t0003g0199 a0011c0012t0003g0051 a0011c0012t0003g0052 a0011c0012t0003g0201 a0011c0012t0003g0202 a0030c0058t0001g0163	11	334	0.0329	32	c.370 others(47): Show c.370-413_370-382dupAGGACACCTGTCCCTCCACCAGTCACTCTG CC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT20_chr17_28323326_28340472	28333072	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	360	0.0028	32	c.-2- others(47): Show c.-2-1117_-2-1086dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	IFT20	ENSG00000109083.14	transcript	ENST00000395418.8	protein_coding	1/4			chr17	TogoVar
IFT27_chr22_36753211_36781119	36754187	T T	TGGCTGAA others(25): Show TGGCTGAATCAGGTGATGTCAAAAAAGGCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	298	0.0034	32	c.41 others(43): Show c.4123_*4124insGGCTGCCTTTTTTGACATCACCTGATTCAGCC	IFT27	ENSG00000100360.15	transcript	ENST00000433985.7	protein_coding		4023		chr22	TogoVar
IFT43_chr14_75980763_76088742	75999235	A A	ATATATAA others(25): Show ATATATAATATTCATTTATATATAAATTCATTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp1 HG02970.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0032 a0001c0001t0001g0050	2	396	0.0051	32	c.147 others(51): Show c.147+10264_147+10265insATATTCATTTATATATAAATTCATTT TATATA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999237	A A	ATATATAA others(25): Show ATATATAATATTCATTTATATATAAATTCATTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01516.hp2 HG01517.hp2 HG01358.hp1 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0218 a0001c0001t0001g0289 a0001c0001t0001g0109 a0001c0001t0001g0218 a0001c0001t0001g0289	3	396	0.0076	32	c.147 others(51): Show c.147+10266_147+10267insATATTCATTTATATATAAATTCATTT TATATA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT74_chr9_26951412_27071134	27022008	T T	TCTCTCTC others(25): Show TCTCTCTCAACAACAACAACGGAGGAGGAGGAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	342	0.0029	32	c.974 others(49): Show c.974+3321_974+3322insCTCTCTCAACAACAACAACGGAGGAGGA GGAA	IFT74	ENSG00000096872.17	transcript	ENST00000380062.10	protein_coding	12/19			chr9	TogoVar
IFT80_chr3_160251986_160404225	160381239	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03490.hp2 HG03834.hp1 HG02602.hp1 HG03490.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0002c0002t0001g0084 a0002c0002t0001g0085 a0001c0001t0001g0008 a0002c0002t0001g0084 a0002c0002t0001g0085	3	212	0.0142	32	c.259 others(47): Show c.259+263_259+264insATATATATATATATATATATATATATATAT AT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	3/19			chr3	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	358	0.0028	32	c.20 others(43): Show c.2073_*2074insATACATATATATATATATATATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01243.hp2 HG01261.hp1 others(8): Show HG00544.hp1 HG01243.hp2 HG01261.hp1 HG01978.hp2 HG04204.hp1 NA18943.hp2 NA18964.hp2 NA18968.hp1 NA19002.hp1 NA19058.hp1 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0029 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0155 a0004c0006t0001g0057	11	358	0.0307	32	c.20 others(43): Show c.2073_*2074insATATATATATATATATATATATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IGBP1_chrX_70128447_70171324	70142222	T T	TTGGGAGG others(25): Show TTGGGAGGCTGAGGCAGGAGAATCACTTGAACC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	245	0.0041	32	c.483 others(49): Show c.483-4411_483-4410insTGGGAGGCTGAGGCAGGAGAATCACTTG AACC	IGBP1	ENSG00000089289.16	transcript	ENST00000356413.5	protein_coding	3/6			chrX	TogoVar
IGBP1_chrX_70128447_70171324	70154714	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	245	0.0041	32	c.871 others(49): Show c.871+4414_871+4415insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	IGBP1	ENSG00000089289.16	transcript	ENST00000356413.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
IGDCC3_chr15_65322127_65383002	65356848	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19240.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0267 a0001c0001t0001g0073 a0001c0001t0001g0267	2	314	0.0064	32	c.409 others(51): Show c.409+18248_409+18249insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	IGDCC3	ENSG00000174498.14	transcript	ENST00000327987.9	protein_coding	2/13			chr15	TogoVar
IGF1_chr12_102390874_102485563	102415543	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCGTCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0022 a0001c0001t0023g0023 a0001c0001t0023g0022 a0001c0001t0023g0023	2	360	0.0056	32	c.402 others(49): Show c.402+3965_402+3966insGGACGGAAGGAAGGAAGGAAGGAAGGAA GGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102415544	T T	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01257.hp2 HG02129.hp1 others(5): Show HG00323.hp2 HG01257.hp2 HG02129.hp1 HG02258.hp1 HG02647.hp1 HG02723.hp2 HG02976.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0032 a0001c0001t0046 a0001c0001t0068	a0001c0001t0001g0123 a0001c0001t0002g0053 a0001c0001t0002g0092 others(5): Show a0001c0001t0001g0123 a0001c0001t0002g0053 a0001c0001t0002g0092 a0001c0001t0006g0258 a0001c0001t0016g0183 a0001c0001t0032g0252 a0001c0001t0046g0204 a0001c0001t0068g0038	8	360	0.0222	32	c.402 others(49): Show c.402+3964_402+3965insCGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00558.hp2 others(21): Show HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00741.hp1 HG01099.hp2 HG01243.hp2 HG01943.hp2 HG02135.hp1 HG02572.hp2 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02976.hp2 HG03491.hp2 NA18970.hp1 NA18977.hp1 NA18978.hp2 NA18983.hp2 NA19043.hp2 NA19068.hp1 NA19076.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032 a0001c0001t0049 a0001c0001t0052 a0001c0001t0068 a0001c0001t0078 a0001c0001t0090	a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0086 others(21): Show a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0292 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0092 a0001c0001t0002g0171 a0001c0001t0006g0264 a0001c0001t0012g0031 a0001c0001t0014g0085 a0001c0001t0014g0176 a0001c0001t0025g0087 a0001c0001t0028g0179 a0001c0001t0032g0135 a0001c0001t0049g0127 a0001c0001t0052g0132 a0001c0001t0068g0038 a0001c0001t0078g0157 a0001c0001t0090g0021	24	360	0.0667	32	c.221 others(49): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TATA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(25): Show TATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	216	0.0046	32	c.813 others(49): Show c.813-1156_813-1155insCTCTCTCTATATATATATATATATATAT ATAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15			chr3	TogoVar

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