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
HSD17B11_chr4_87331515_87396188	87378845	AATATATA others(19): Show AATATATATATAAATATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02809.hp1 others(5): Show HG02055.hp2 HG02559.hp2 HG02809.hp1 HG02965.hp2 HG02970.hp1 HG03516.hp1 NA18747.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0094 a0001c0001t0003g0108 a0001c0001t0003g0124 others(5): Show a0001c0001t0003g0094 a0001c0001t0003g0108 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0007g0119	8	390	0.0205	-26	c.318 others(43): Show c.318+3384_318+3409delATATTTATATATATTTATATATATAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378869	TATATATA others(19): Show TATATATATATAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18939.hp1 NA18943.hp1 others(1): Show HG00423.hp1 NA18939.hp1 NA18943.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0211 a0001c0001t0001g0232 a0001c0001t0001g0244 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0232 a0001c0001t0001g0244 a0001c0001t0003g0084	4	390	0.0103	-26	c.318 others(43): Show c.318+3360_318+3385delTTATATATATATATTTATATATATAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378881	AATATATA others(19): Show AATATATATATATAAATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03491.hp2 HG06807.hp2 others(2): Show HG02738.hp2 HG03491.hp2 HG06807.hp2 NA18960.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0001 a0001c0001t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0001g0205 a0001c0001t0003g0089 a0001c0001t0003g0090 others(2): Show a0001c0001t0001g0205 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0107 a0002c0004t0001g0270	5	390	0.0128	-26	c.318 others(43): Show c.318+3348_318+3373delATTTATATATATTTATATATATATAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378893	TAAATATA others(19): Show TAAATATATATAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	390	0.0026	-26	c.318 others(43): Show c.318+3336_318+3361delTTATATATATATATTTATATATATTT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378905	AATATATA others(19): Show AATATATATATATAAATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	390	0.0026	-26	c.318 others(43): Show c.318+3324_318+3349delATTTATATATATTTATATATATATAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B12_chr11_43675738_43861615	43690361	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA19010.hp2 HG01258.hp1 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0179 a0002c0002t0002g0181	2	280	0.0071	-26	c.160 others(43): Show c.160+9393_160+9418delATATATATATATATATATATATATAT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43817004	CTATATCT others(19): Show CTATATCTATATCTATATCTATATCTA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01106.hp1 others(16): Show HG00639.hp2 HG00642.hp2 HG01106.hp1 HG01361.hp2 HG01978.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0266 others(16): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0003g0207 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0274 a0003c0004t0001g0231 a0003c0004t0001g0244 a0003c0004t0001g0252	19	280	0.0679	-26	c.501 others(41): Show c.501+617_501+642delATCTATATCTATATCTATATCTATAT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSH2D_chr19_16138685_16163575	16152318	TGAGGCAG others(19): Show TGAGGCAGGAGAATGGCGTGAATCCGG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	394	0.0025	-26	c.126 others(41): Show c.126-228_126-203delAGGAGAATGGCGTGAATCCGGGAGGC	HSH2D	ENSG00000196684.12	transcript	ENST00000613986.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
HSPA12A_chr10_116666192_116747566	116740671	TGTGTCTG others(19): Show TGTGTCTGTGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03704.hp1 HG02602.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	320	0.0063	-26	c.40+ others(41): Show c.40+1733_40+1758delGCACACACACACACACACACAGACAC	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA12B_chr20_3727685_3758111	3729503	ATGCATGT others(19): Show ATGCATGTGTGTGCATGCAAGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02109.hp2 others(19): Show HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0012 a0002c0004	a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 others(7): Show a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0008t0003 a0001c0009t0003 a0001c0012t0001 a0002c0004t0001 a0002c0004t0003	a0001c0001t0004g0039 a0001c0001t0004g0156 a0001c0001t0004g0157 others(15): Show a0001c0001t0004g0039 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0007g0158 a0001c0002t0001g0224 a0001c0002t0003g0145 a0001c0002t0013g0025 a0001c0008t0003g0162 a0001c0008t0003g0233 a0001c0009t0003g0163 a0001c0009t0003g0178 a0001c0012t0001g0161 a0002c0004t0001g0023 a0002c0004t0003g0014 a0002c0004t0003g0200 a0002c0004t0003g0202 a0002c0004t0003g0220	22	424	0.0519	-26	c.-33 others(37): Show c.-3308_-3283delTGCATGTGTGTGCATGCAAGTGTGTG	HSPA12B	ENSG00000132622.11	transcript	ENST00000254963.7	protein_coding		3181		chr20	TogoVar
HSPA1L_chr6_31804619_31820283	31806377	CGTCGGCC others(19): Show CGTCGGCCTCCCCACTGTGCTCTCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18959.hp1 NA19000.hp1 NA18939.hp2 NA18959.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0002 a0001c0001t0001g0023	3	429	0.0070	-26	c.36 others(37): Show c.3644_*3669delTGAGAGAGCACAGTGGGGAGGCCGAC	HSPA1L	ENSG00000204390.10	transcript	ENST00000375654.5	protein_coding		3241		chr6	TogoVar
HSPE1_chr2_197495379_197508449	197505640	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02572.hp1 others(12): Show HG01109.hp1 HG02145.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006	15	406	0.0370	-26	c.23 others(37): Show c.2382_*2407delTGTGTGTGTGTATATATATATATATA	HSPE1	ENSG00000115541.11	transcript	ENST00000233893.10	protein_coding		2192		chr2	TogoVar
HTATIP2_chr11_20358714_20388782	20361341	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA19082.hp2 HG02895.hp2 HG02897.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0008 a0001c0001t0004 a0002c0002t0008	a0001c0001t0004g0051 a0001c0001t0004g0168 a0002c0002t0008g0149 a0001c0001t0004g0051 a0001c0001t0004g0168 a0002c0002t0008g0149	3	420	0.0071	-26	c.-28 others(37): Show c.-2896_-2871delATATATATATATATATATATATATAC	HTATIP2	ENSG00000109854.14	transcript	ENST00000451739.7	protein_coding		2372		chr11	TogoVar
HTR2C_chrX_114579086_114915061	114644362	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	176	0.0057	-26	c.-80 others(45): Show c.-80+30502_-80+30527delATATATATATATATATATATATATAT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114806467	TATATATA others(19): Show TATATATATACTGTATATATATACACC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01243.hp1 others(29): Show HG01074.hp1 HG01106.hp1 HG01243.hp1 HG01943.hp1 HG02055.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG04199.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19076.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0012 a0002c0002t0020	a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0098 others(29): Show a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0002g0004 a0001c0001t0002g0006 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0159 a0002c0002t0001g0163 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0004g0166 a0002c0002t0004g0167 a0002c0002t0004g0168 a0002c0002t0004g0169 a0002c0002t0005g0055 a0002c0002t0007g0057 a0002c0002t0012g0003 a0002c0002t0020g0142	32	176	0.1818	-26	c.350 others(45): Show c.350-41525_350-41500delTGTATATATATACACCATATATATAC	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTRA3_chr4_8264754_8312098	8303776	CCGTTCCG others(19): Show CCGTTCCGTGACTCAGCATTGTCTGTA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	388	0.0052	-26	c.110 others(43): Show c.1101-382_1101-357delACGTTCCGTGACTCAGCATTGTCTGT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8310991	GCCCTGCA others(19): Show GCCCTGCACCCACGCAGCCATCACTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0112 a0001c0001t0014g0112	1	388	0.0026	-26	c.48 others(37): Show c.4856_*4881delCCCTGCACCCACGCAGCCATCACTGA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding		3894		chr4	TogoVar
HUS1B_chr6_650939_662100	653375	GATGGAAA others(19): Show GATGGAAATTAAAATTGCTACTCTAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	432	0.0023	-26	c.27 others(37): Show c.2707_*2732delACTAGAGTAGCAATTTTAATTTCCAT	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		2563		chr6	TogoVar
HUWE1_chrX_53527096_53691719	53645736	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0029 a0001c0019t0003g0029	1	214	0.0047	-26	c.352 others(41): Show c.352-299_352-274delATATATATATATATATATATATATAT	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	6/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53689008	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0008 a0001c0001t0011g0008	1	214	0.0047	-26	c.-27 others(37): Show c.-2708_-2683delGAAAGAAAGAAAGAAAGAAAGAAAGA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding		2290		chrX	TogoVar
HYAL1_chr3_50294893_50308574	50304292	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG01243.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	384	0.0052	-26	c.-87 others(35): Show c.-877_-852delATATATATATATATATATATATTTTT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		719		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03041.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	384	0.0078	-26	c.-88 others(35): Show c.-881_-856delATATATATATATATATATATATATAT	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding		723		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304292	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG01243.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	2	378	0.0053	-26	c.-51 others(37): Show c.-5123_-5098delATATATATATATATATATATATTTTT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4888		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03041.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	3	378	0.0079	-26	c.-51 others(37): Show c.-5127_-5102delATATATATATATATATATATATATAT	HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding		4892		chr3	TogoVar
HYCC2_chr2_200968718_201076671	201069543	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp2 HG03491.hp2 others(2): Show HG01261.hp1 HG02145.hp2 HG03491.hp2 HG03942.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0028 a0001c0001t0032 a0001c0001t0013 a0001c0001t0028 a0001c0001t0032	a0001c0001t0013g0003 a0001c0001t0013g0005 a0001c0001t0013g0145 others(2): Show a0001c0001t0013g0003 a0001c0001t0013g0005 a0001c0001t0013g0145 a0001c0001t0028g0144 a0001c0001t0032g0004	5	176	0.0284	-26	c.-12 others(45): Show c.-129+2041_-129+2066delGTGTGTGTGTGTGTGTGTGTGTGTGT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	1/12			chr2	TogoVar
HYDIN_chr16_70797084_71235722	70864330	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	174	0.0058	-26	c.114 others(47): Show c.11472-1174_11472-1149delTTTTTTTTTTTTTTTTTTTTTTTT TT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	67/85			chr16	TogoVar
HYLS1_chr11_125882668_125905646	125900706	ATGAGAGC others(19): Show ATGAGAGCTCAAAAGAAGGAACAAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	436	0.0023	-26	c.43 others(35): Show c.439_*464delTGAGAGCTCAAAAGAAGGAACAAGCC	HYLS1	ENSG00000198331.11	transcript	ENST00000425380.7	protein_coding		61		chr11	TogoVar
IBSP_chr4_87794554_87817435	87813979	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG03098.hp1 NA19043.hp2 HG02895.hp2 HG03098.hp1 NA19043.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0018 a0006c0006t0001g0024 a0006c0006t0001g0031 a0006c0006t0001g0018 a0006c0006t0001g0024 a0006c0006t0001g0031	3	454	0.0066	-26	c.20 others(37): Show c.2070_*2095delATATATATATATATATATATATATAT	IBSP	ENSG00000029559.7	transcript	ENST00000226284.7	protein_coding		1545		chr4	TogoVar
ICA1L_chr2_202768176_202876766	202839558	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0204 a0001c0001t0060g0204	1	330	0.0030	-26	c.-7- others(43): Show c.-7-10568_-7-10543delCACACACACACACACACACACACACA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICAM2_chr17_63997595_64025633	64014713	GGAAGGAA others(19): Show GGAAGGAAGGAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	392	0.0026	-26	c.-45 others(43): Show c.-45+5784_-45+5809delTTCTTTCTTTCTTTCTTCCTTCCTTC	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
ICE1_chr5_5417677_5495220	5435658	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTGTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp2 others(68): Show HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG01069.hp1 HG01071.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG03239.hp2 HG03669.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18978.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19067.hp1 NA19068.hp1 NA19076.hp2 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0017	a0001c0005 a0001c0018 a0003c0002 others(3): Show a0001c0005 a0001c0018 a0003c0002 a0003c0040 a0011c0016 a0017c0041	a0001c0005t0001 a0001c0018t0001 a0003c0002t0001 others(3): Show a0001c0005t0001 a0001c0018t0001 a0003c0002t0001 a0003c0040t0001 a0011c0016t0001 a0017c0041t0001	a0001c0005t0001g0003 a0001c0005t0001g0095 a0001c0005t0001g0235 others(47): Show a0001c0005t0001g0003 a0001c0005t0001g0095 a0001c0005t0001g0235 a0001c0005t0001g0236 a0001c0005t0001g0237 a0001c0005t0001g0238 a0001c0005t0001g0239 a0001c0005t0001g0240 a0001c0018t0001g0266 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0015 a0003c0002t0001g0016 a0003c0002t0001g0017 a0003c0002t0001g0033 a0003c0002t0001g0034 a0003c0002t0001g0035 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0091 a0003c0002t0001g0092 a0003c0002t0001g0093 a0003c0002t0001g0096 a0003c0002t0001g0241 a0003c0002t0001g0242 a0003c0002t0001g0243 a0003c0002t0001g0244 a0003c0002t0001g0245 a0003c0002t0001g0246 a0003c0002t0001g0247 a0003c0002t0001g0248 a0003c0002t0001g0255 a0003c0002t0001g0258 a0003c0002t0001g0260 a0003c0002t0001g0261 a0003c0002t0001g0262 a0003c0002t0001g0263 a0003c0002t0001g0264 a0003c0002t0001g0265 a0003c0002t0001g0267 a0003c0002t0001g0268 a0003c0002t0001g0269 a0003c0002t0001g0270 a0003c0002t0001g0271 a0003c0002t0001g0272 a0003c0002t0001g0273 a0003c0040t0001g0097 a0011c0016t0001g0259 a0011c0016t0001g0283 a0017c0041t0001g0094	71	364	0.1951	-26	c.85- others(39): Show c.85-749_85-724delTTTTGTTTTGTTTTTGTTTTTTTTTT	ICE1	ENSG00000164151.12	transcript	ENST00000296564.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
IER3_chr6_30738199_30749547	30746541	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01109.hp2 HG01256.hp1 others(14): Show HG00733.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG02602.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG03017.hp2 HG03209.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18988.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	17	449	0.0379	-26	c.-20 others(37): Show c.-2049_-2024delATATATATATATATATATATATATAT	IER3	ENSG00000137331.12	transcript	ENST00000259874.6	protein_coding		1995		chr6	TogoVar
IFIH1_chr2_162262074_162323684	162314458	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03195.hp1 HG03195.hp2 others(3): Show HG02486.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp2 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0005 a0008c0014 a0001c0005 a0008c0014	a0001c0005t0003 a0008c0014t0003 a0001c0005t0003 a0008c0014t0003	a0001c0005t0003g0004 a0001c0005t0003g0192 a0008c0014t0003g0194 a0001c0005t0003g0004 a0001c0005t0003g0192 a0008c0014t0003g0194	6	220	0.0273	-26	c.453 others(43): Show c.453+3371_453+3396delGAAAGAAAGAAAGAAAGAAAGAAAGA	IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding	1/15			chr2	TogoVar
IFIH1_chr2_162262074_162323684	162321909	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01175.hp1 HG01255.hp2 others(20): Show HG00621.hp1 HG01175.hp1 HG01255.hp2 HG02015.hp2 HG03654.hp1 NA18941.hp1 NA18948.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18990.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19058.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19084.hp2 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0002 a0001c0003 a0003c0002	a0001c0003t0001 a0003c0002t0001 a0001c0003t0001 a0003c0002t0001	a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0026 others(16): Show a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0003c0002t0001g0168	23	220	0.1046	-26	c.-36 others(37): Show c.-3628_-3603delGTATATATATATATATATATATATAT	IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding		3226		chr2	TogoVar
IFIT1_chr10_89387623_89411487	89394603	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01515.hp1 others(5): Show HG00323.hp2 HG01081.hp1 HG01515.hp1 HG02683.hp2 HG03130.hp1 NA18941.hp1 NA19007.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0003 a0001c0002t0002 a0001c0002t0025 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0025 a0002c0005t0002	a0001c0001t0003g0133 a0001c0002t0002g0014 a0001c0002t0002g0072 others(2): Show a0001c0001t0003g0133 a0001c0002t0002g0014 a0001c0002t0002g0072 a0001c0002t0025g0014 a0002c0005t0002g0014	8	430	0.0186	-26	c.5+1 others(39): Show c.5+1888_5+1913delTATATATATATATATATATATATAAA	IFIT1	ENSG00000185745.10	transcript	ENST00000371804.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
IFITM10_chr11_1727406_1755595	1754412	AAGGGATG others(19): Show AAGGGATGGAGGGGCATGGAGGGATGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02922.hp1 HG01884.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0001g0004 a0001c0001t0001g0099	2	406	0.0049	-26	c.-39 others(37): Show c.-3996_-3971delCCATCCCTCCATGCCCCTCCATCCCT	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3818		chr11	TogoVar
IFNA4_chr9_21181618_21192587	21184323	TTCCTTCC others(19): Show TTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	428	0.0023	-26	c.26 others(37): Show c.2613_*2638delGAAGGAAGGAAGGAAGGAAGGAAGGA	IFNA4	ENSG00000236637.5	transcript	ENST00000421715.3	protein_coding		2294		chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322319	TATATATA others(19): Show TATATATATATGGAATATATATCTGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19056.hp1 NA19084.hp2 NA19000.hp2 NA19056.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0095 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0095	3	323	0.0093	-26	c.-27 others(37): Show c.-2736_-2711delATATATATATGGAATATATATCTGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2650		chr21	TogoVar
IFNAR2_chr21_33224938_33270664	33242758	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03710.hp2 HG03654.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0296 a0001c0001t0005g0297	2	424	0.0047	-26	c.55+ others(39): Show c.55+802_55+827delGTGTGTGTGTGTGTGTGTGTGTGTGT	IFNAR2	ENSG00000159110.22	transcript	ENST00000342136.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNGR2_chr21_33398413_33442516	33398661	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGCGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG02145.hp2 others(4): Show HG00639.hp1 HG01109.hp1 HG02145.hp2 HG02559.hp2 HG03453.hp2 HG03579.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0006 a0001c0001t0001 a0001c0001t0006 a0002c0002t0006	a0001c0001t0001g0084 a0001c0001t0006g0013 a0001c0001t0006g0081 others(3): Show a0001c0001t0001g0084 a0001c0001t0006g0013 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0083 a0002c0002t0006g0085	7	386	0.0181	-26	c.-48 others(37): Show c.-4882_-4857delTGTGTGTGTGTGTGTGTGTGCGTGTG	IFNGR2	ENSG00000159128.16	transcript	ENST00000290219.11	protein_coding		4751		chr21	TogoVar
IFNLR1_chr1_24149168_24192289	24162752	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01516.hp2 HG01517.hp2 others(14): Show HG01071.hp1 HG01516.hp2 HG01517.hp2 HG02129.hp2 HG02135.hp2 HG02451.hp1 HG03209.hp2 HG03579.hp1 NA18522.hp1 NA18948.hp2 NA18957.hp2 NA18990.hp2 NA19030.hp2 NA19058.hp1 NA19063.hp2 NA19085.hp2 NA19086.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0035 a0001c0001t0037 a0001c0001t0042 a0004c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0196 a0001c0001t0001g0302 others(12): Show a0001c0001t0001g0014 a0001c0001t0001g0196 a0001c0001t0001g0302 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0004g0085 a0001c0001t0007g0200 a0001c0001t0007g0218 a0001c0001t0009g0076 a0001c0001t0009g0080 a0001c0001t0009g0081 a0001c0001t0035g0120 a0001c0001t0037g0313 a0001c0001t0042g0181 a0004c0007t0001g0015	17	396	0.0429	-26	c.368 others(43): Show c.368-1094_368-1069delAAGAAAGAAAGAAAGAAAGAAAGAAA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6			chr1	TogoVar
IFT122_chr3_129435224_129525507	129489769	GCGGAGCG others(19): Show GCGGAGCGTGCAGTGAGCCGAGATGGT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0020 a0001c0015t0001g0020	1	356	0.0028	-26	c.199 others(45): Show c.1992+1373_1992+1398delCGGAGCGTGCAGTGAGCCGAGATGGT	IFT122	ENSG00000163913.14	transcript	ENST00000348417.7	protein_coding	16/29			chr3	TogoVar
IFT140_chr16_1505427_1617072	1528315	GCACGCAT others(19): Show GCACGCATGCACGCACGTGTGCACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01069.hp1 others(34): Show HG00099.hp2 HG00639.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01891.hp1 HG02015.hp1 HG02056.hp1 HG02129.hp2 HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA18941.hp2 NA18970.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19065.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0007 others(5): Show a0001 a0003 a0007 a0008 a0015 a0016 a0018 a0030	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0020 a0001c0054 a0003c0005 a0003c0017 a0003c0019 a0003c0059 a0007c0013 a0008c0016 a0015c0028 a0016c0027 a0018c0030 a0030c0058	a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 others(13): Show a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 a0001c0020t0003 a0001c0054t0001 a0003c0005t0001 a0003c0005t0003 a0003c0017t0001 a0003c0019t0003 a0003c0059t0001 a0007c0013t0001 a0008c0016t0001 a0015c0028t0001 a0016c0027t0003 a0018c0030t0003 a0030c0058t0001	a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0175 others(34): Show a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0251 a0001c0001t0004g0254 a0001c0002t0001g0067 a0001c0004t0001g0066 a0001c0004t0001g0095 a0001c0020t0003g0138 a0001c0020t0003g0139 a0001c0054t0001g0119 a0003c0005t0001g0141 a0003c0005t0001g0142 a0003c0005t0001g0146 a0003c0005t0001g0147 a0003c0005t0001g0148 a0003c0005t0001g0150 a0003c0005t0001g0155 a0003c0005t0001g0156 a0003c0005t0001g0157 a0003c0005t0003g0063 a0003c0005t0003g0135 a0003c0005t0003g0149 a0003c0017t0001g0058 a0003c0017t0001g0059 a0003c0019t0003g0136 a0003c0019t0003g0137 a0003c0059t0001g0050 a0007c0013t0001g0191 a0007c0013t0001g0192 a0007c0013t0001g0193 a0007c0013t0001g0194 a0008c0016t0001g0054 a0015c0028t0001g0057 a0016c0027t0003g0134 a0018c0030t0003g0198 a0030c0058t0001g0163	37	334	0.1108	-26	c.240 others(45): Show c.2400-1545_2400-1520delTGTGTGCACACGTGCGTGCATGCGTG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	19/30			chr16	TogoVar
IFT25_chr1_53916561_53950699	53945868	CCTCCACC others(19): Show CCTCCACCGAGTTCCCGGGCGCGCTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp1 others(98): Show HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18956.hp2 NA18966.hp1 NA18969.hp2 NA18973.hp1 NA18983.hp1 NA18984.hp2 NA18993.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19081.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(61): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0002g0032 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0003g0033	101	282	0.3582	-26	c.-35 others(35): Show c.-355_-330delCGAGCGCGCCCGGGAACTCGGTGGAG	IFT25	ENSG00000081870.12	transcript	ENST00000194214.10	protein_coding		170		chr1	TogoVar
IFT43_chr14_75980763_76088742	75999247	ATATATAT others(19): Show ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	396	0.0025	-26	c.147 others(45): Show c.147+10280_147+10305delATATATATATATATATGTATATATAT	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999257	ATATATAT others(19): Show ATATATATATATATATGTATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	396	0.0025	-26	c.147 others(45): Show c.147+10282_147+10307delATATATATATATATGTATATATATTT	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT81_chr12_110119357_110223793	110179724	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG03041.hp1 others(1): Show HG02257.hp1 HG02922.hp1 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0122 a0001c0001t0001g0123	4	218	0.0184	-26	c.118 others(43): Show c.1189-673_1189-648delTATATATATATATATATATATATATA	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
IFT88_chr13_20562157_20696444	20580459	GTGAGCCA others(19): Show GTGAGCCAAGATCACGCCATTGCACAA	G G	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	308	0.0033	-26	c.91- others(41): Show c.91-2471_91-2446delTGAGCCAAGATCACGCCATTGCACAA	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr13	TogoVar
IGDCC4_chr15_65376484_65427947	65427219	GTCTCAAA others(19): Show GTCTCAAAAAAAAAAAATCAATAATAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0166 a0003c0005t0003g0166	1	352	0.0028	-26	c.-43 others(37): Show c.-4383_-4358delTTATTATTGATTTTTTTTTTTTGAGA	IGDCC4	ENSG00000103742.12	transcript	ENST00000352385.3	protein_coding		4273		chr15	TogoVar
IGF2BP1_chr17_48992385_49061145	49019933	TATATATA others(19): Show TATATATATATATATATTTATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp1 HG02965.hp2 HG02055.hp2 HG02922.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0136 a0001c0001t0006g0138 a0001c0001t0019g0137 a0001c0001t0006g0136 a0001c0001t0006g0138 a0001c0001t0019g0137	3	318	0.0094	-26	c.237 others(43): Show c.237-5683_237-5658delTATATATATATATATTTATATACACA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar

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