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
IFNAR1_chr21_33319970_33364864	33323144	T T	TATGTTAT others(6): Show TATGTTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01496.hp2 HG01358.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0016 a0001c0001t0001g0097	2	323	0.0062	13	c.-19 others(24): Show c.-1912_-1911insATGTTATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1825		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323151	T T	TATATATA others(6): Show TATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	323	0.0031	13	c.-19 others(24): Show c.-1905_-1904insATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1818		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323179	T T	TATATATA others(6): Show TATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0127 a0001c0001t0042g0127	1	323	0.0031	13	c.-18 others(24): Show c.-1877_-1876insATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1790		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323389	T T	TATGGAAT others(6): Show TATGGAATATAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01515.hp2 HG00639.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0004 a0001c0001t0019g0056 a0001c0001t0019g0004 a0001c0001t0019g0056	2	323	0.0062	13	c.-16 others(24): Show c.-1667_-1666insATGGAATATAGAG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1580		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323402	G G	GATGGAAT others(6): Show GATGGAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG03491.hp1 others(7): Show HG02976.hp1 HG03195.hp1 HG03491.hp1 NA18959.hp1 NA18971.hp1 NA18983.hp2 NA19001.hp2 NA19004.hp2 NA19006.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0008 a0001c0006t0028 a0001c0001t0001 a0001c0001t0008 a0001c0006t0028	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0085 a0001c0001t0008g0047 a0001c0006t0028g0099	10	323	0.0310	13	c.-16 others(24): Show c.-1654_-1653insATGGAATATATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1567		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323415	G G	TATGGAAT others(6): Show TATGGAATATAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	323	0.0031	13	c.-16 others(24): Show c.-1642_-1641insTATGGAATATAGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1555		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323559	A A	AATATATG others(6): Show AATATATGTGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02647.hp1 others(2): Show HG02145.hp2 HG02258.hp1 HG02647.hp1 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0042 a0001c0001t0043 others(2): Show a0001c0001t0020 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045	a0001c0001t0020g0020 a0001c0001t0042g0127 a0001c0001t0043g0128 others(2): Show a0001c0001t0020g0020 a0001c0001t0042g0127 a0001c0001t0043g0128 a0001c0001t0044g0020 a0001c0001t0045g0129	5	323	0.0155	13	c.-14 others(24): Show c.-1497_-1496insATATATGTGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1410		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323565	T T	TATGGAAT others(6): Show TATGGAATATAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG01069.hp1 others(35): Show HG00323.hp1 HG00438.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01258.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG04199.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp2 NA18962.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18992.hp2 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19009.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19064.hp2 NA19070.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(23): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0002g0151 a0001c0001t0007g0021 a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0167 a0001c0001t0011g0011	38	323	0.1177	13	c.-14 others(24): Show c.-1491_-1490insATGGAATATAGAG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1404		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323607	G G	GGAATATA others(6): Show GGAATATAGAGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02155.hp2 NA18941.hp2 others(15): Show HG00609.hp1 HG02155.hp2 NA18941.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18957.hp2 NA18971.hp1 NA18973.hp2 NA18983.hp1 NA18985.hp1 NA18994.hp1 NA19007.hp1 NA19064.hp1 NA19068.hp2 NA19072.hp2 NA19085.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0037 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0034g0014	18	323	0.0557	13	c.-14 others(24): Show c.-1449_-1448insGAATATAGAGATC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1362		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323670	A A	AATATAGA others(6): Show AATATAGATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	323	0.0031	13	c.-13 others(24): Show c.-1386_-1385insATATAGATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1299		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323694	A A	AATATAGA others(6): Show AATATAGAGATGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02615.hp1 others(4): Show HG02109.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0013 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0037 a0001c0001t0039 a0001c0005t0013	a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0013g0091 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0013g0091 a0001c0001t0037g0077 a0001c0001t0039g0084 a0001c0005t0013g0086 a0001c0005t0013g0098	7	323	0.0217	13	c.-13 others(24): Show c.-1362_-1361insATATAGAGATGGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1275		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323733	G G	GATATAGA others(6): Show GATATAGAGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01069.hp2 others(28): Show HG00323.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG04199.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18957.hp1 NA18962.hp1 NA18980.hp2 NA18982.hp2 NA18992.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19009.hp1 NA19058.hp2 NA19059.hp1 NA19064.hp2 NA19070.hp1 NA19083.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0001 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0007g0021 a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0011g0025	31	323	0.0960	13	c.-13 others(24): Show c.-1323_-1322insATATAGAGATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1236		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323759	G G	GATATAGA others(6): Show GATATAGAGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG03239.hp1 others(3): Show HG01081.hp2 HG01168.hp2 HG03239.hp1 NA18979.hp2 NA18995.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0002g0151 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0002g0151 a0001c0001t0007g0021 a0001c0001t0007g0167 a0001c0001t0011g0011	6	323	0.0186	13	c.-12 others(24): Show c.-1297_-1296insATATAGAGATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1210		chr21	TogoVar
IFNAR2_chr21_33224938_33270664	33242728	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01175.hp1 others(9): Show HG00323.hp1 HG01070.hp1 HG01175.hp1 HG01256.hp1 HG01496.hp1 HG02040.hp1 HG02698.hp1 HG02735.hp1 HG03139.hp2 NA18980.hp1 NA19005.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017	a0001c0001t0005g0138 a0001c0001t0005g0276 a0001c0001t0005g0279 others(9): Show a0001c0001t0005g0138 a0001c0001t0005g0276 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0005g0301 a0001c0001t0005g0308 a0001c0001t0006g0285 a0001c0001t0006g0309 a0001c0001t0006g0313 a0001c0001t0017g0289	12	424	0.0283	13	c.55+ others(26): Show c.55+759_55+771dupAAAAAAAAAAAAA	IFNAR2	ENSG00000159110.22	transcript	ENST00000342136.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNAR2_chr21_33224938_33270664	33247254	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp1 HG01258.hp2 others(2): Show HG01175.hp1 HG01256.hp1 HG01258.hp2 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0035 a0001c0001t0005 a0001c0001t0014 a0001c0001t0035	a0001c0001t0005g0138 a0001c0001t0005g0276 a0001c0001t0005g0278 others(2): Show a0001c0001t0005g0138 a0001c0001t0005g0276 a0001c0001t0005g0278 a0001c0001t0014g0303 a0001c0001t0035g0298	5	424	0.0118	13	c.394 others(28): Show c.394+367_394+379dupTTTTTTTTTTTTT	IFNAR2	ENSG00000159110.22	transcript	ENST00000342136.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNB1_chr9_21072104_21082942	21079775	T T	TGTTACAT others(6): Show TGTTACATTTGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	458	0.0022	13	c.-19 others(24): Show c.-1907_-1906insTTACAAATGTAAC	IFNB1	ENSG00000171855.7	transcript	ENST00000380232.4	protein_coding		1834		chr9	TogoVar
IFNGR2_chr21_33398413_33442516	33400305	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02055.hp2 HG01175.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0159 a0001c0001t0001g0165	2	386	0.0052	13	c.-32 others(24): Show c.-3239_-3238insTTTTTTTTTTTTT	IFNGR2	ENSG00000159128.16	transcript	ENST00000290219.11	protein_coding		3107		chr21	TogoVar
IFNG_chr12_68149768_68164740	68161586	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02145.hp1 HG02559.hp1 others(2): Show HG00741.hp1 HG02145.hp1 HG02559.hp1 HG02698.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0001g0003 a0001c0001t0004g0035 a0001c0001t0004g0038	5	422	0.0119	13	c.-19 others(24): Show c.-1972_-1971insAAAAAAAAAAAAA	IFNG	ENSG00000111537.5	transcript	ENST00000229135.4	protein_coding		1847		chr12	TogoVar
IFNLR1_chr1_24149168_24192289	24159738	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	396	0.0025	13	c.511 others(28): Show c.511-106_511-105insCAAAAAAAAAAAA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	4/6			chr1	TogoVar
IFNLR1_chr1_24149168_24192289	24162819	C C	CTTCTTTC others(6): Show CTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	396	0.0025	13	c.368 others(30): Show c.368-1136_368-1135insAGAAAAGAAAGAA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6			chr1	TogoVar
IFNLR1_chr1_24149168_24192289	24162917	T T	TTTTCTTT others(6): Show TTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 HG03516.hp2 others(1): Show HG02486.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0001 a0011c0012t0006 a0001c0001t0001 a0011c0012t0006	a0001c0001t0001g0293 a0001c0001t0001g0329 a0001c0001t0001g0330 others(1): Show a0001c0001t0001g0293 a0001c0001t0001g0329 a0001c0001t0001g0330 a0011c0012t0006g0152	4	396	0.0101	13	c.368 others(30): Show c.368-1246_368-1234dupGAAAAGAAAGAAA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6			chr1	TogoVar
IFNLR1_chr1_24149168_24192289	24188357	A A	AGTGTGTG others(6): Show AGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01168.hp1 others(30): Show HG00733.hp1 HG00738.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01358.hp2 HG01515.hp2 HG01978.hp2 HG01993.hp1 HG02083.hp1 HG02083.hp2 HG02155.hp2 HG02559.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp2 HG03017.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18966.hp2 NA18971.hp1 NA18990.hp1 NA19030.hp1 NA19056.hp1 NA19063.hp2 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0012 a0001c0003t0006 a0001c0003t0011 a0001c0010t0002 a0001c0017t0030	a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0198 others(30): Show a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0001g0293 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0235 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0258 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0003g0229 a0001c0001t0007g0199 a0001c0001t0007g0286 a0001c0002t0012g0002 a0001c0002t0012g0191 a0001c0003t0006g0186 a0001c0003t0011g0195 a0001c0010t0002g0216 a0001c0017t0030g0243	33	396	0.0833	13	c.-11 others(24): Show c.-1110_-1109insCACACACACACAC	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding		1069		chr1	TogoVar
IFT140_chr16_1505427_1617072	1507862	G G	GTGGGGGT others(6): Show GTGGGGGTGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01243.hp2 others(27): Show HG01192.hp1 HG01192.hp2 HG01243.hp2 HG02015.hp1 HG02056.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp2 HG02280.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA18948.hp2 NA18964.hp1 NA19007.hp2 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19081.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0008 a0010 a0015 a0023 a0030	a0001c0001 a0001c0004 a0003c0005 others(8): Show a0001c0001 a0001c0004 a0003c0005 a0003c0017 a0003c0059 a0005c0039 a0008c0016 a0010c0046 a0015c0028 a0023c0051 a0030c0058	a0001c0001t0004 a0001c0004t0001 a0003c0005t0001 others(8): Show a0001c0001t0004 a0001c0004t0001 a0003c0005t0001 a0003c0017t0001 a0003c0059t0001 a0005c0039t0001 a0008c0016t0001 a0010c0046t0004 a0015c0028t0001 a0023c0051t0004 a0030c0058t0001	a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0175 others(27): Show a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0251 a0001c0001t0004g0254 a0001c0001t0004g0260 a0001c0001t0004g0277 a0001c0004t0001g0095 a0003c0005t0001g0141 a0003c0005t0001g0142 a0003c0005t0001g0143 a0003c0005t0001g0144 a0003c0005t0001g0145 a0003c0005t0001g0146 a0003c0005t0001g0147 a0003c0005t0001g0148 a0003c0005t0001g0150 a0003c0005t0001g0155 a0003c0005t0001g0156 a0003c0005t0001g0157 a0003c0017t0001g0058 a0003c0017t0001g0059 a0003c0059t0001g0050 a0005c0039t0001g0158 a0008c0016t0001g0054 a0008c0016t0001g0056 a0010c0046t0004g0267 a0015c0028t0001g0057 a0023c0051t0004g0249 a0030c0058t0001g0163	30	334	0.0898	13	c.30 others(24): Show c.3081_*3082insTCACACACCCCCA	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding		2564		chr16	TogoVar
IFT140_chr16_1505427_1617072	1530133	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG06807.hp2 NA18522.hp1 others(1): Show HG02897.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp1	a0006 a0011 a0006 a0011	a0006c0007 a0011c0012 a0006c0007 a0011c0012	a0006c0007t0003 a0011c0012t0003 a0006c0007t0003 a0011c0012t0003	a0006c0007t0003g0159 a0006c0007t0003g0161 a0006c0007t0003g0199 others(1): Show a0006c0007t0003g0159 a0006c0007t0003g0161 a0006c0007t0003g0199 a0011c0012t0003g0201	4	334	0.0120	13	c.240 others(32): Show c.2400-3350_2400-3338dupAAAAAAAAAAAAA	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	19/30			chr16	TogoVar
IFT20_chr17_28323326_28340472	28328608	T T	TTTTTTTT others(6): Show TTTTTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0073	1	360	0.0028	13	c.31 others(20): Show c.31_*43dupCAAAACAAAAAAA	IFT20	ENSG00000109083.14	transcript	ENST00000395418.8	protein_coding	5/5	43		chr17	TogoVar
IFT43_chr14_75980763_76088742	75999237	A A	ATATAATA others(6): Show ATATAATATTCATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	396	0.0025	13	c.147 others(32): Show c.147+10264_147+10265insATATTCATTTATA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999239	A A	ATATAATA others(6): Show ATATAATATTCATT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	396	0.0025	13	c.147 others(32): Show c.147+10266_147+10267insATATTCATTTATA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	76062938	A A	AAAAAAGA others(6): Show AAAAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(93): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02129.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18978.hp2 NA18982.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp2 NA19062.hp1 NA19068.hp1 NA19070.hp1 NA19081.hp1 NA19084.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0023 others(91): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0325 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0380 a0001c0004t0001g0231	96	396	0.2424	13	c.295 others(30): Show c.295+3568_295+3569insAAGAAAAAAGAAA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT46_chr11_118539543_118570931	118558135	C C	CAATTATC others(6): Show CAATTATCACATAA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	380	0.0026	13	c.46- others(28): Show c.46-1091_46-1090insTTATGTGATAATT	IFT46	ENSG00000118096.10	transcript	ENST00000264021.8	protein_coding	3/11			chr11	TogoVar
IFT52_chr20_43585937_43652299	43602138	T T	TTTTTATT others(6): Show TTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0239	1	300	0.0033	13	c.208 others(30): Show c.208-1619_208-1618insTATTTATTTATTT	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFT52_chr20_43585937_43652299	43602143	T T	TATTTATT others(6): Show TATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01099.hp2 others(9): Show HG00733.hp1 HG00738.hp1 HG01099.hp2 HG01123.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01884.hp2 HG01952.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0110 a0001c0001t0001g0111 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0131 a0001c0001t0001g0184 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235	12	300	0.0400	13	c.208 others(30): Show c.208-1617_208-1616insATTTATTTATTTA	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	3/13			chr20	TogoVar
IFT52_chr20_43585937_43652299	43630558	G G	GTCAACTA others(6): Show GTCAACTACAGGGT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	300	0.0033	13	c.924 others(30): Show c.924-5367_924-5355dupTCAACTACAGGGT	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFT56_chr7_139128778_139196986	139158313	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG02055.hp2 others(22): Show HG00544.hp1 HG00642.hp1 HG02055.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03834.hp1 HG03927.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18956.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18987.hp2 NA18990.hp2 NA19004.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0003t0017	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 others(21): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0006g0061 a0001c0002t0001g0141 a0001c0002t0004g0010 a0001c0002t0004g0028 a0001c0002t0004g0032 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0045 a0001c0002t0004g0159 a0001c0002t0005g0133 a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0005g0137 a0001c0002t0011g0138 a0001c0002t0011g0139 a0001c0003t0017g0088	25	330	0.0758	13	c.718 others(30): Show c.718-2623_718-2622insAAAAAAAAAAAAA	IFT56	ENSG00000105948.13	transcript	ENST00000464848.5	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
IFT57_chr3_108155812_108227424	108196258	C C	CACCCTCA others(6): Show CACCCTCATTTCCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00673.hp1 others(36): Show HG00408.hp2 HG00558.hp1 HG00673.hp1 HG00738.hp2 HG01070.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01891.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02300.hp2 HG02451.hp1 HG02818.hp1 HG02922.hp2 HG03130.hp1 HG03139.hp1 HG03704.hp1 NA18612.hp1 NA18944.hp1 NA18966.hp1 NA18989.hp2 NA19002.hp2 NA19005.hp1 NA19057.hp1 NA19058.hp1 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0010 a0001c0002t0004 a0001c0002t0007 others(2): Show a0001c0001t0010 a0001c0002t0004 a0001c0002t0007 a0001c0002t0016 a0001c0012t0015	a0001c0001t0010g0144 a0001c0001t0010g0145 a0001c0002t0004g0008 others(35): Show a0001c0001t0010g0144 a0001c0001t0010g0145 a0001c0002t0004g0008 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0004g0059 a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0007g0315 a0001c0002t0007g0316 a0001c0002t0007g0317 a0001c0002t0007g0318 a0001c0002t0016g0036 a0001c0012t0015g0314	39	354	0.1102	13	c.655 others(30): Show c.655-4628_655-4616dupTGGAAATGAGGGT	IFT57	ENSG00000114446.5	transcript	ENST00000264538.4	protein_coding	5/10			chr3	TogoVar
IFT74_chr9_26951412_27071134	27005352	T T	TCCCCCGC others(6): Show TCCCCCGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	342	0.0029	13	c.588 others(30): Show c.588-3663_588-3662insGCCCCCCCCCCCC	IFT74	ENSG00000096872.17	transcript	ENST00000380062.10	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
IGDCC3_chr15_65322127_65383002	65356848	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01169.hp2 others(26): Show HG00099.hp1 HG00558.hp1 HG01169.hp2 HG01243.hp1 HG01496.hp1 HG01934.hp1 HG02132.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG04199.hp2 NA18939.hp1 NA18945.hp2 NA18975.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp2 NA19056.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0007c0017 a0009c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0002c0002t0005 a0002c0002t0012 a0002c0002t0019 a0002c0002t0032 a0002c0002t0033 a0002c0002t0037 a0002c0002t0038 a0002c0005t0003 a0007c0017t0001 a0009c0019t0015	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0052 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0206 a0001c0001t0001g0277 a0001c0001t0001g0305 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0186 a0001c0001t0021g0099 a0001c0001t0021g0171 a0001c0001t0042g0289 a0001c0001t0044g0152 a0001c0001t0047g0307 a0002c0002t0005g0012 a0002c0002t0005g0142 a0002c0002t0012g0036 a0002c0002t0019g0091 a0002c0002t0032g0116 a0002c0002t0033g0188 a0002c0002t0037g0281 a0002c0002t0038g0087 a0002c0005t0003g0117 a0007c0017t0001g0132 a0009c0019t0015g0096	29	314	0.0924	13	c.409 others(32): Show c.409+18236_409+18248dupAAAAAAAAAAAAA	IGDCC3	ENSG00000174498.14	transcript	ENST00000327987.9	protein_coding	2/13			chr15	TogoVar
IGF1R_chr15_98643539_98969530	98661956	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02683.hp2 others(4): Show HG02258.hp1 HG02559.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG03017.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0013 a0001c0001t0018 a0001c0001t0079 others(4): Show a0001c0001t0013 a0001c0001t0018 a0001c0001t0079 a0001c0003t0017 a0001c0004t0097 a0001c0006t0008 a0001c0006t0013	a0001c0001t0013g0100 a0001c0001t0018g0185 a0001c0001t0079g0099 others(4): Show a0001c0001t0013g0100 a0001c0001t0018g0185 a0001c0001t0079g0099 a0001c0003t0017g0182 a0001c0004t0097g0180 a0001c0006t0008g0101 a0001c0006t0013g0098	7	210	0.0333	13	c.94+ others(30): Show c.94+12295_94+12307dupTTTTTTTTTTTTT	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1R_chr15_98643539_98969530	98909261	C C	CTTTTTTC others(6): Show CTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0130 a0001c0004t0130	a0001c0004t0130g0057 a0001c0004t0130g0057	1	210	0.0048	13	c.146 others(30): Show c.1462+368_1462+369insCTTTTTTTTTTTT	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1_chr12_102390874_102485563	102407094	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	360	0.0028	13	c.403 others(30): Show c.403-4541_403-4529dupTTTTTTTTTTTTT	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441955	C C	CTTCTTCT others(6): Show CTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0078 a0001c0001t0070g0078	1	360	0.0028	13	c.221 others(32): Show c.221-22266_221-22265insAGAAGAAGAAGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102458730	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02818.hp1 NA19240.hp1 others(1): Show HG01167.hp2 HG02818.hp1 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0056 a0001c0001t0057 a0001c0001t0020 a0001c0001t0056 a0001c0001t0057	a0001c0001t0020g0079 a0001c0001t0020g0083 a0001c0001t0056g0011 others(1): Show a0001c0001t0020g0079 a0001c0001t0020g0083 a0001c0001t0056g0011 a0001c0001t0057g0010	4	360	0.0111	13	c.220 others(32): Show c.220+16900_220+16912dupTTTTTTTTTTTTT	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP1_chr17_48992385_49061145	49059984	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0245 a0001c0001t0008g0216 a0001c0001t0002g0245 a0001c0001t0008g0216	2	318	0.0063	13	c.10 others(26): Show c.10540_*10541insAAAAAAAAAAAAA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding		3840		chr17	TogoVar
IGF2BP3_chr7_23305209_23475491	23367446	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG03139.hp1 others(1): Show HG02572.hp1 HG02615.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0007 a0001c0004t0016 a0001c0001t0002 a0001c0004t0007 a0001c0004t0016	a0001c0001t0002g0183 a0001c0004t0007g0024 a0001c0004t0007g0051 others(1): Show a0001c0001t0002g0183 a0001c0004t0007g0024 a0001c0004t0007g0051 a0001c0004t0016g0013	4	230	0.0174	13	c.286 others(30): Show c.286-5706_286-5705insTTTTTTTTTTTTT	IGF2BP3	ENSG00000136231.14	transcript	ENST00000258729.8	protein_coding	3/14			chr7	TogoVar
IGF2BP3_chr7_23305209_23475491	23368343	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	230	0.0044	13	c.286 others(30): Show c.286-6603_286-6602insCTTTCTTTCTTTT	IGF2BP3	ENSG00000136231.14	transcript	ENST00000258729.8	protein_coding	3/14			chr7	TogoVar
IGF2R_chr6_159964082_160116504	160000728	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03540.hp2 HG02896.hp1 HG03540.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0010 a0009c0013t0010	a0009c0013t0010g0159 a0009c0013t0010g0161 a0009c0013t0010g0159 a0009c0013t0010g0161	2	310	0.0065	13	c.290 others(30): Show c.290-8269_290-8257dupTTTTTTTTTTTTT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	2/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160085244	A A	AGATATGA others(6): Show AGATATGATTGCCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0024 a0001c0024t0024	a0001c0024t0024g0201 a0001c0024t0024g0201	1	310	0.0032	13	c.620 others(30): Show c.6205+115_6205+127dupATATGATTGCCTG	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	41/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGFBP2_chr2_216628420_216669436	216634906	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp2 others(100): Show HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01106.hp2 HG01255.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03654.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0150 a0001c0001t0001g0372 a0001c0001t0004g0093 a0001c0001t0005g0038 a0001c0001t0006g0113 a0001c0001t0009g0009 a0001c0001t0010g0069 a0002c0002t0001g0006 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0056 a0002c0002t0001g0065 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0105 a0002c0002t0001g0117 a0004c0004t0001g0044	103	402	0.2562	13	c.442 others(28): Show c.442+941_442+942insTTTTTTTTTTTTA	IGFBP2	ENSG00000115457.10	transcript	ENST00000233809.9	protein_coding	1/3			chr2	TogoVar
IGFBP6_chr12_53092667_53107340	53099483	C C	CGGAGGGT others(6): Show CGGAGGGTCCGGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	416	0.0024	13	c.335 others(30): Show c.335-1229_335-1228insGGAGGGTCCGGGG	IGFBP6	ENSG00000167779.9	transcript	ENST00000301464.4	protein_coding	1/3			chr12	TogoVar
IGFL2_chr19_46143238_46166289	46149294	T T	TCTTCCCC others(6): Show TCTTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04115.hp1 HG02738.hp1 HG04115.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0143 a0002c0005t0001g0144 a0002c0005t0001g0143 a0002c0005t0001g0144	2	452	0.0044	13	c.19+ others(28): Show c.19+1004_19+1005insCTCCCCCTTCCCC	IGFL2	ENSG00000204866.9	transcript	ENST00000377693.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
IGFN1_chr1_201185824_201233952	201202751	C C	CCCCTCCC others(6): Show CCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0093 a0093	a0093c0064 a0093c0064	a0093c0064t0003 a0093c0064t0003	a0093c0064t0003g0225 a0093c0064t0003g0225	1	428	0.0023	13	c.747 others(28): Show c.747+921_747+922insCTCCCTCCCTTCC	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr1	TogoVar

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