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
IRAG2_chr12_25047706_25113335	25077361	G G	GAAATATA others(6): Show GAAATATATATGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(81): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02486.hp1 HG02735.hp1 HG02809.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19030.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp2 NA19081.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0007 a0001c0008 others(4): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0008t0001 a0002c0002t0001 a0002c0002t0006 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0008 a0004c0004t0001 a0006c0005t0001	a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0080 others(79): Show a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0002g0281 a0001c0007t0001g0129 a0001c0007t0001g0130 a0001c0007t0001g0131 a0001c0008t0001g0274 a0002c0002t0001g0008 a0002c0002t0001g0083 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0207 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0247 a0002c0002t0001g0267 a0002c0002t0001g0275 a0002c0002t0001g0289 a0002c0002t0001g0294 a0002c0002t0006g0210 a0002c0002t0006g0234 a0003c0003t0001g0243 a0003c0003t0002g0184 a0003c0003t0003g0021 a0003c0003t0003g0156 a0003c0003t0003g0158 a0003c0003t0003g0307 a0003c0003t0008g0161 a0004c0004t0001g0004 a0006c0005t0001g0157 a0006c0005t0001g0244	84	344	0.2442	13	c.25- others(28): Show c.25-1882_25-1881insAATATATATGAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25100000	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp1 HG02055.hp1 others(16): Show HG00280.hp1 HG01261.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02976.hp1 HG03130.hp2 HG03225.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA19060.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006 a0006c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0012 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0012 a0003c0003t0001 a0003c0003t0003 a0005c0006t0001 a0005c0006t0007 a0006c0005t0001	a0001c0001t0001g0085 a0001c0001t0001g0225 a0001c0001t0001g0248 others(15): Show a0001c0001t0001g0085 a0001c0001t0001g0225 a0001c0001t0001g0248 a0002c0002t0001g0013 a0002c0002t0001g0047 a0002c0002t0001g0141 a0002c0002t0001g0163 a0002c0002t0001g0176 a0002c0002t0001g0289 a0002c0002t0012g0167 a0003c0003t0001g0028 a0003c0003t0003g0023 a0003c0003t0003g0049 a0003c0003t0003g0158 a0005c0006t0001g0299 a0005c0006t0001g0300 a0005c0006t0007g0302 a0006c0005t0001g0244	19	344	0.0552	13	c.742 others(30): Show c.742-1165_742-1153dupAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01109.hp2 HG01167.hp2 others(33): Show HG00408.hp2 HG01109.hp2 HG01167.hp2 HG01346.hp2 HG02004.hp1 HG02135.hp2 HG02145.hp2 HG02258.hp2 HG02523.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18960.hp2 NA18981.hp2 NA18982.hp2 NA19030.hp2 NA19054.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0005	a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 others(7): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0009 a0004c0004t0001 a0005c0006t0001 a0006c0005t0001	a0001c0001t0002g0281 a0002c0002t0001g0003 a0002c0002t0001g0013 others(30): Show a0001c0001t0002g0281 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0063 a0002c0002t0001g0160 a0002c0002t0001g0164 a0002c0002t0001g0176 a0003c0003t0001g0028 a0003c0003t0002g0093 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0127 a0003c0003t0002g0150 a0003c0003t0002g0180 a0003c0003t0002g0187 a0003c0003t0002g0189 a0003c0003t0002g0266 a0003c0003t0003g0021 a0003c0003t0003g0307 a0003c0003t0004g0314 a0003c0003t0009g0031 a0003c0003t0009g0078 a0004c0004t0001g0040 a0004c0004t0001g0067 a0004c0004t0001g0140 a0005c0006t0001g0298 a0006c0005t0001g0065 a0006c0005t0001g0066 a0006c0005t0001g0157 a0006c0005t0001g0165	36	344	0.1047	13	c.76 others(22): Show c.765_*766insAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar
IRAK2_chr3_10159919_10248745	10162878	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	292	0.0034	13	c.-20 others(24): Show c.-2077_-2076insTATATATATATAT	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding		2040		chr3	TogoVar
IRAK2_chr3_10159919_10248745	10174932	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp1 HG02622.hp1 others(6): Show HG01069.hp1 HG02055.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG03209.hp2 HG03516.hp2 NA18906.hp1 NA18906.hp2	a0001 a0004 a0009 others(1): Show a0001 a0004 a0009 a0011	a0001c0001 a0004c0005 a0009c0010 others(1): Show a0001c0001 a0004c0005 a0009c0010 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0004c0005t0001 a0004c0005t0003 a0009c0010t0001 a0011c0022t0003	a0001c0001t0001g0104 a0001c0001t0002g0145 a0001c0001t0005g0049 others(6): Show a0001c0001t0001g0104 a0001c0001t0002g0145 a0001c0001t0005g0049 a0001c0001t0005g0271 a0004c0005t0001g0182 a0004c0005t0001g0275 a0004c0005t0003g0071 a0009c0010t0001g0008 a0011c0022t0003g0126	9	292	0.0308	13	c.95- others(28): Show c.95-2895_95-2894insAAAAAAAAAAAAA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10240537	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0052 a0003c0004t0001g0052	1	292	0.0034	13	c.176 others(32): Show c.1765+1504_1765+1516dupCCCCCCCCCCCCC	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10240537	G G	GCCCCCCC others(6): Show GCCCCCCCCCCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0264 a0004c0005t0003g0264	1	292	0.0034	13	c.176 others(32): Show c.1765+1508_1765+1509insTCCCCCCCCCCCC	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK4_chr12_43753951_43794541	43790275	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02056.hp2 NA18939.hp2 others(4): Show HG02027.hp1 HG02056.hp2 NA18939.hp2 NA18954.hp1 NA19004.hp1 NA19060.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0035 a0002c0002t0007 a0002c0002t0020 a0001c0001t0035 a0002c0002t0007 a0002c0002t0020	a0001c0001t0035g0099 a0002c0002t0007g0008 a0002c0002t0007g0133 others(2): Show a0001c0001t0035g0099 a0002c0002t0007g0008 a0002c0002t0007g0133 a0002c0002t0020g0038 a0002c0002t0020g0134	7	354	0.0198	13	c.35 others(24): Show c.3560_*3561insTTTTTTTTTTTTT	IRAK4	ENSG00000198001.16	transcript	ENST00000613694.5	protein_coding		735		chr12	TogoVar
IREB2_chr15_78433216_78506453	78434369	C C	CACACACA others(6): Show CACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0241 a0001c0002t0003g0241	1	420	0.0024	13	c.-39 others(24): Show c.-3969_-3968insACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3846		chr15	TogoVar
IREB2_chr15_78433216_78506453	78504595	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp2 NA19057.hp2 HG02109.hp1 HG02109.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0034 a0001c0001t0002 a0001c0001t0011 a0001c0001t0034	a0001c0001t0002g0190 a0001c0001t0011g0133 a0001c0001t0034g0119 a0001c0001t0002g0190 a0001c0001t0011g0133 a0001c0001t0034g0119	3	420	0.0071	13	c.64 others(24): Show c.6452_*6453insAAAAAAAAAAAAA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3143		chr15	TogoVar
IRF1_chr5_132476609_132495773	132485849	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00741.hp2 others(23): Show HG00438.hp1 HG00438.hp2 HG00741.hp2 HG01243.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02818.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18946.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18978.hp2 NA18997.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19055.hp1 NA19058.hp2 NA19059.hp2 NA19068.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0058	a0001c0002t0003g0006 a0001c0002t0004g0107 a0001c0002t0007g0013 others(1): Show a0001c0002t0003g0006 a0001c0002t0004g0107 a0001c0002t0007g0013 a0001c0002t0058g0092	26	436	0.0596	13	c.668 others(28): Show c.668-134_668-133insGTGTGTGTGTGTG	IRF1	ENSG00000125347.15	transcript	ENST00000245414.9	protein_coding	7/9			chr5	TogoVar
IRF2_chr4_184382729_184479550	184452770	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02922.hp2 HG03688.hp1 others(1): Show HG02083.hp1 HG02922.hp2 HG03688.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0171 a0001c0001t0002g0275 a0001c0001t0003g0199 others(1): Show a0001c0001t0002g0171 a0001c0001t0002g0275 a0001c0001t0003g0199 a0001c0002t0001g0277	4	376	0.0106	13	c.-7+ others(30): Show c.-7+21596_-7+21608dupTTTTTTTTTTTTT	IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	1/8			chr4	TogoVar
IRF8_chr16_85894162_85927606	85915117	G G	GGAGCCCT others(6): Show GGAGCCCTGGTCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(172): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0001c0001t0022 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0018 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0004t0019 a0001c0007t0005 a0001c0008t0009 a0001c0009t0007 a0001c0009t0011 a0001c0010t0006 a0001c0011t0009	a0001c0001t0001g0060 a0001c0001t0001g0223 a0001c0001t0001g0224 others(106): Show a0001c0001t0001g0060 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0054 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0166 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0003g0228 a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0001t0004g0029 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0004g0143 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0154 a0001c0001t0004g0172 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0005g0030 a0001c0001t0005g0039 a0001c0001t0005g0066 a0001c0001t0005g0139 a0001c0001t0007g0129 a0001c0001t0020g0237 a0001c0001t0022g0189 a0001c0002t0002g0184 a0001c0002t0005g0102 a0001c0002t0005g0197 a0001c0002t0005g0216 a0001c0002t0005g0217 a0001c0002t0007g0067 a0001c0002t0007g0068 a0001c0002t0007g0195 a0001c0002t0011g0080 a0001c0002t0011g0164 a0001c0002t0018g0194 a0001c0003t0002g0119 a0001c0003t0004g0242 a0001c0003t0005g0075 a0001c0003t0005g0095 a0001c0003t0005g0137 a0001c0003t0005g0138 a0001c0003t0005g0187 a0001c0003t0005g0201 a0001c0003t0005g0202 a0001c0003t0005g0203 a0001c0003t0005g0204 a0001c0003t0005g0214 a0001c0003t0005g0215 a0001c0003t0005g0229 a0001c0003t0006g0013 a0001c0003t0006g0091 a0001c0003t0006g0135 a0001c0003t0006g0136 a0001c0004t0019g0218 a0001c0007t0005g0057 a0001c0007t0005g0178 a0001c0007t0005g0179 a0001c0007t0005g0180 a0001c0007t0005g0209 a0001c0008t0009g0162 a0001c0008t0009g0163 a0001c0008t0009g0165 a0001c0008t0009g0245 a0001c0009t0007g0090 a0001c0009t0011g0055 a0001c0009t0011g0157 a0001c0009t0011g0173 a0001c0010t0006g0032 a0001c0010t0006g0205 a0001c0011t0009g0021	175	432	0.4051	13	c.601 others(28): Show c.601+598_601+599insAGCCCTGGTCACG	IRF8	ENSG00000140968.12	transcript	ENST00000268638.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRF8_chr16_85894162_85927606	85915117	G G	GGAGCCTT others(6): Show GGAGCCTTGGTCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02976.hp1 others(3): Show HG02109.hp2 HG02622.hp1 HG02976.hp1 NA18522.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0087 a0001c0001t0007g0026 a0001c0001t0007g0152 others(1): Show a0001c0001t0005g0087 a0001c0001t0007g0026 a0001c0001t0007g0152 a0001c0001t0007g0153	6	432	0.0139	13	c.601 others(28): Show c.601+598_601+599insAGCCTTGGTCACG	IRF8	ENSG00000140968.12	transcript	ENST00000268638.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRGQ_chr19_43579367_43601134	43579530	A A	AGCTACCG others(6): Show AGCTACCGTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0093 a0001c0002t0093	a0001c0002t0093g0072 a0001c0002t0093g0072	1	426	0.0024	13	c.12 others(26): Show c.12483_*12495dupCAGGCACGGTAGC	IRGQ	ENSG00000167378.10	transcript	ENST00000422989.6	protein_coding		4836		chr19	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0212 a0001c0002t0002g0212	1	278	0.0036	13	c.21 others(32): Show c.21+28825_*21+28826insAAAAATATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01928.hp1 NA18951.hp1 others(1): Show HG01496.hp2 HG01928.hp1 NA18951.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0068 a0001c0002t0002 a0001c0002t0003 a0001c0002t0068	a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0003g0223 others(1): Show a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0003g0223 a0001c0002t0068g0226	4	278	0.0144	13	c.21 others(32): Show c.21+28825_*21+28826insAAAAAAATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0249 a0001c0002t0002g0249	1	278	0.0036	13	c.21 others(32): Show c.21+28825_*21+28826insAAAAAAAAATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03139.hp2 HG03195.hp1 others(5): Show HG01993.hp1 HG03139.hp2 HG03195.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18994.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0043 a0001c0001t0045 a0001c0002t0002	a0001c0001t0001g0147 a0001c0001t0002g0125 a0001c0001t0015g0202 others(5): Show a0001c0001t0001g0147 a0001c0001t0002g0125 a0001c0001t0015g0202 a0001c0001t0043g0179 a0001c0001t0045g0187 a0001c0002t0002g0243 a0001c0002t0002g0246 a0001c0002t0002g0247	8	278	0.0288	13	c.21 others(32): Show c.21+28825_*21+28826insAAAAAAAAAAATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19080.hp1 NA18954.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0166 a0001c0002t0001g0244 a0001c0001t0007g0166 a0001c0002t0001g0244	2	278	0.0072	13	c.21 others(32): Show c.21+28813_*21+28825dupAAAAAAAAAAAAA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766164	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0031 a0001c0003t0004g0031	1	278	0.0036	13	c.21 others(32): Show c.21+28824_*21+28825insTATATATATATAT	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226791637	C C	CCCGCCCG others(6): Show CCCGCCCGCCACCA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03654.hp2 HG03927.hp2 HG02735.hp1 HG03654.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0029 a0001c0003t0030 a0001c0003t0004 a0001c0003t0029 a0001c0003t0030	a0001c0003t0004g0013 a0001c0003t0029g0042 a0001c0003t0030g0043 a0001c0003t0004g0013 a0001c0003t0029g0042 a0001c0003t0030g0043	3	278	0.0108	13	c.21 others(30): Show c.21+3339_*21+3351dupTGGTGGCGGGCGG	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRX6_chr16_55319203_55335756	55325572	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	448	0.0022	13	c.45+ others(26): Show c.45+436_45+437insGAGAGAGAGAGAG	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5			chr16	TogoVar
ISL1_chr5_51378448_51399730	51390642	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01433.hp1 NA18960.hp2 HG00621.hp2 HG01433.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0173 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0173	3	342	0.0088	13	c.766 others(28): Show c.766-606_766-594dupTTTTTTTTTTTTT	ISL1	ENSG00000016082.15	transcript	ENST00000230658.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
ISM1_chr20_13216274_13305651	13218517	C C	CATGCAAA others(6): Show CATGCAAACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	396	0.0025	13	c.-32 others(24): Show c.-3260_-3259insATGCAAACAGACA	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding		2756		chr20	TogoVar
ISM1_chr20_13216274_13305651	13277417	C C	CTACAGGC others(6): Show CTACAGGCAGAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(133): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0006c0007 a0008c0011 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0036 a0001c0001t0039 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0010t0029 a0002c0003t0002 a0002c0003t0031 a0006c0007t0008 a0008c0011t0007 a0009c0009t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(128): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0321 a0001c0001t0001g0362 a0001c0001t0001g0371 a0001c0001t0001g0376 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0002g0015 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0105 a0001c0001t0002g0116 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0220 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0282 a0001c0001t0002g0292 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0330 a0001c0001t0002g0339 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0037 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0148 a0001c0001t0004g0009 a0001c0001t0004g0342 a0001c0001t0004g0352 a0001c0001t0004g0361 a0001c0001t0005g0018 a0001c0001t0005g0028 a0001c0001t0005g0036 a0001c0001t0005g0053 a0001c0001t0006g0138 a0001c0001t0006g0149 a0001c0001t0006g0151 a0001c0001t0007g0277 a0001c0001t0008g0080 a0001c0001t0008g0084 a0001c0001t0009g0357 a0001c0001t0010g0153 a0001c0001t0010g0155 a0001c0001t0010g0158 a0001c0001t0010g0174 a0001c0001t0011g0365 a0001c0001t0013g0065 a0001c0001t0013g0137 a0001c0001t0014g0196 a0001c0001t0016g0006 a0001c0001t0017g0341 a0001c0001t0020g0145 a0001c0001t0024g0271 a0001c0001t0025g0236 a0001c0001t0027g0096 a0001c0001t0036g0221 a0001c0001t0039g0204 a0001c0002t0001g0117 a0001c0002t0001g0161 a0001c0002t0001g0366 a0001c0002t0003g0052 a0001c0002t0004g0370 a0001c0010t0029g0006 a0002c0003t0002g0070 a0002c0003t0031g0235 a0006c0007t0008g0081 a0008c0011t0007g0367 a0009c0009t0002g0248	136	396	0.3434	13	c.379 others(30): Show c.379-2217_379-2216insTACAGGCAGAGGG	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	2/5			chr20	TogoVar
ISM2_chr14_77469394_77503816	77496799	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	280	0.0036	13	c.141 others(30): Show c.141+1841_141+1853dupTTTTTTTTTTTTT	ISM2	ENSG00000100593.18	transcript	ENST00000342219.9	protein_coding	1/6			chr14	TogoVar
ISOC1_chr5_129089749_129119028	129101182	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp1 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0084 a0001c0001t0001g0088	2	418	0.0048	13	c.310 others(30): Show c.310-3774_310-3773insTATATATATATAT	ISOC1	ENSG00000066583.12	transcript	ENST00000173527.6	protein_coding	1/4			chr5	TogoVar
ISOC1_chr5_129089749_129119028	129101192	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG03239.hp1 others(1): Show HG00621.hp2 HG00733.hp1 HG03239.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0192 a0001c0001t0001g0024 a0001c0001t0001g0192	4	418	0.0096	13	c.310 others(30): Show c.310-3763_310-3762insAAATATATATATA	ISOC1	ENSG00000066583.12	transcript	ENST00000173527.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
ISOC1_chr5_129089749_129119028	129101192	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02004.hp2 HG02015.hp2 others(1): Show HG01496.hp2 HG02004.hp2 HG02015.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0159 a0001c0001t0001g0202 a0001c0001t0003g0052 a0001c0001t0001g0159 a0001c0001t0001g0202 a0001c0001t0003g0052	4	418	0.0096	13	c.310 others(30): Show c.310-3763_310-3762insATATATATATATA	ISOC1	ENSG00000066583.12	transcript	ENST00000173527.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
ISOC1_chr5_129089749_129119028	129101192	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02895.hp1 HG02897.hp2 others(2): Show HG01167.hp1 HG02895.hp1 HG02897.hp2 NA18963.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0002g0063 others(1): Show a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0002g0063 a0001c0004t0001g0206	5	418	0.0120	13	c.310 others(30): Show c.310-3764_310-3763insTATATATATATAT	ISOC1	ENSG00000066583.12	transcript	ENST00000173527.6	protein_coding	1/4			chr5	TogoVar
IST1_chr16_71890531_71936199	71892908	T T	TAACCCAT others(6): Show TAACCCATATTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	352	0.0028	13	c.-26 others(24): Show c.-2697_-2696insAACCCATATTCCA	IST1	ENSG00000182149.21	transcript	ENST00000378799.11	protein_coding		2622		chr16	TogoVar
IST1_chr16_71890531_71936199	71893029	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG03540.hp2 others(2): Show HG02258.hp2 HG03130.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0027 a0003c0004t0006 a0003c0004t0027	a0003c0004t0006g0007 a0003c0004t0006g0064 a0003c0004t0006g0066 others(2): Show a0003c0004t0006g0007 a0003c0004t0006g0064 a0003c0004t0006g0066 a0003c0004t0006g0070 a0003c0004t0027g0077	5	352	0.0142	13	c.-25 others(24): Show c.-2576_-2575insTTTTTTTTTTTTT	IST1	ENSG00000182149.21	transcript	ENST00000378799.11	protein_coding		2501		chr16	TogoVar
IST1_chr16_71890531_71936199	71935166	T T	TCAATGTG others(6): Show TCAATGTGACTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	352	0.0028	13	c.73 others(24): Show c.7353_*7354insCAATGTGACTAGC	IST1	ENSG00000182149.21	transcript	ENST00000378799.11	protein_coding		3968		chr16	TogoVar
ITCH_chr20_34358273_34516773	34364724	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp1 HG02074.hp2 others(4): Show HG00544.hp1 HG01884.hp1 HG02074.hp2 HG02602.hp2 HG03098.hp1 HG04204.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0006g0121 others(4): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0006g0121 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0002t0001g0120 a0001c0002t0003g0119	7	294	0.0238	13	c.-99 others(30): Show c.-99+1382_-99+1394dupAAAAAAAAAAAAA	ITCH	ENSG00000078747.17	transcript	ENST00000374864.10	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITCH_chr20_34358273_34516773	34372384	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02818.hp2 HG02886.hp1 others(1): Show HG00544.hp1 HG02818.hp2 HG02886.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0002t0003	a0001c0001t0003g0231 a0001c0001t0007g0143 a0001c0001t0012g0193 others(1): Show a0001c0001t0003g0231 a0001c0001t0007g0143 a0001c0001t0012g0193 a0001c0002t0003g0119	4	294	0.0136	13	c.-22 others(30): Show c.-22+2916_-22+2928dupTTTTTTTTTTTTT	ITCH	ENSG00000078747.17	transcript	ENST00000374864.10	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITCH_chr20_34358273_34516773	34386095	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 NA21309.hp2 HG02280.hp2 HG02559.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0004t0009 a0001c0001t0009 a0001c0004t0009	a0001c0001t0009g0292 a0001c0001t0009g0293 a0001c0004t0009g0294 a0001c0001t0009g0292 a0001c0001t0009g0293 a0001c0004t0009g0294	3	294	0.0102	13	c.-21 others(30): Show c.-21-7692_-21-7680dupTTTTTTTTGTTTT	ITCH	ENSG00000078747.17	transcript	ENST00000374864.10	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITFG1_chr16_47149391_47466063	47307093	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02723.hp2 others(2): Show HG02257.hp2 HG02622.hp1 HG02723.hp2 HG02896.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0066 a0001c0002t0002g0073 a0001c0002t0002g0074 others(2): Show a0001c0001t0001g0066 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0083 a0001c0004t0001g0071	5	110	0.0455	13	c.107 others(32): Show c.1070+4134_1070+4146dupTTTTTTTTTTTTT	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	10/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01258.hp2 HG00609.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0043 a0001c0001t0001g0054	2	110	0.0182	13	c.655 others(32): Show c.655+19399_655+19400insAAATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01169.hp2 HG03453.hp1 HG00735.hp2 HG01169.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0006 a0001c0001t0001g0100 a0001c0002t0002g0088 a0001c0001t0001g0006 a0001c0001t0001g0100 a0001c0002t0002g0088	3	110	0.0273	13	c.655 others(32): Show c.655+19399_655+19400insAAAAAAATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409405	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	110	0.0091	13	c.655 others(32): Show c.655+19398_655+19399insTATATATATATAT	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITGA10_chr1_145886208_145915050	145886869	C C	CCCCCCCG others(6): Show CCCCCCCGCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG03704.hp2 HG01192.hp2 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0046 a0002c0003t0002g0047	2	390	0.0051	13	c.59 others(24): Show c.5928_*5929insCGGGGGCGGGGGG	ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding		4338		chr1	TogoVar
ITGA11_chr15_68291532_68437163	68397321	T T	TATTAATT others(6): Show TATTAATTATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0010 a0010	a0010c0084 a0010c0084	a0010c0084t0018 a0010c0084t0018	a0010c0084t0018g0153 a0010c0084t0018g0153	1	242	0.0041	13	c.164 others(30): Show c.164+5596_164+5597insTTATATAATTAAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400757	T T	TATATTAT others(6): Show TATATTATATAATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20129.hp1 HG03209.hp2 NA20129.hp1	a0004 a0006 a0004 a0006	a0004c0065 a0006c0017 a0004c0065 a0006c0017	a0004c0065t0016 a0006c0017t0020 a0004c0065t0016 a0006c0017t0020	a0004c0065t0016g0116 a0006c0017t0020g0140 a0004c0065t0016g0116 a0006c0017t0020g0140	2	242	0.0083	13	c.164 others(30): Show c.164+2160_164+2161insTATTATATAATAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA1_chr5_52782916_52964209	52872575	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG04199.hp1 HG01106.hp2 HG04199.hp1	a0001 a0011 a0001 a0011	a0001c0003 a0011c0025 a0001c0003 a0011c0025	a0001c0003t0001 a0011c0025t0005 a0001c0003t0001 a0011c0025t0005	a0001c0003t0001g0209 a0011c0025t0005g0070 a0001c0003t0001g0209 a0011c0025t0005g0070	2	322	0.0062	13	c.624 others(30): Show c.624+6764_624+6776dupTTTTTTTTTTTTT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA2B_chr17_44367181_44394649	44368147	T T	TATATATA others(6): Show TATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	354	0.0028	13	c.42 others(24): Show c.4216_*4217insTATATATATATAT	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4033		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44385435	G G	GGGCCCTG others(6): Show GGGCCCTGGGGCGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0110 a0002c0002t0001g0111	2	354	0.0057	13	c.574 others(28): Show c.574+103_575-101dupTCGCCCCAGGGCC	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding	4/29			chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44389559	T T	TGTGGGGG others(6): Show TGTGGGGGGGGGGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0172 a0002c0002t0006g0172	1	354	0.0028	13	c.-87 others(20): Show c.-87_-86insCCCCCCCCCCCAC	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding	1/30	87		chr17	TogoVar
ITGA2_chr5_52984352_53099779	53044274	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG03831.hp1 HG01516.hp1 HG01517.hp1 HG03831.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0018 a0002c0003t0007g0349 a0002c0003t0007g0018 a0002c0003t0007g0349	3	398	0.0075	13	c.296 others(28): Show c.296-707_296-695dupAAAAAAAAAAAAA	ITGA2	ENSG00000164171.11	transcript	ENST00000296585.10	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA2_chr5_52984352_53099779	53094196	A A	AACTTTGT others(6): Show AACTTTGTAGGACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG02257.hp1 others(2): Show HG01243.hp2 HG01261.hp1 HG02257.hp1 HG02451.hp2 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0026 a0002c0003t0017 a0002c0003t0026	a0002c0003t0017g0021 a0002c0003t0017g0022 a0002c0003t0017g0023 others(2): Show a0002c0003t0017g0021 a0002c0003t0017g0022 a0002c0003t0017g0023 a0002c0003t0026g0274 a0002c0003t0026g0275	5	398	0.0126	13	c.35 others(24): Show c.3598_*3599insCTTTGTAGGACTA	ITGA2	ENSG00000164171.11	transcript	ENST00000296585.10	protein_coding	30/30	3599	INFO_REALIGN_3_PRIME	chr5	TogoVar

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