JoGo: Joint Open Genome and Omics Platform

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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
INSR_chr19_7107265_7299414	7153011	CACCACAC others(10): Show CACCACACACACACACCA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG02155.hp1 others(7): Show HG00597.hp2 HG00673.hp2 HG02155.hp1 HG02523.hp2 NA18944.hp1 NA18966.hp1 NA18968.hp2 NA19003.hp1 NA19066.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0010 a0001c0001t0030 a0001c0001t0031 others(7): Show a0001c0001t0010 a0001c0001t0030 a0001c0001t0031 a0001c0001t0047 a0001c0003t0005 a0001c0003t0025 a0001c0003t0069 a0001c0003t0144 a0001c0003t0149 a0001c0004t0145	a0001c0001t0010g0018 a0001c0001t0030g0186 a0001c0001t0031g0244 others(7): Show a0001c0001t0010g0018 a0001c0001t0030g0186 a0001c0001t0031g0244 a0001c0001t0047g0058 a0001c0003t0005g0195 a0001c0003t0025g0004 a0001c0003t0069g0017 a0001c0003t0144g0259 a0001c0003t0149g0197 a0001c0004t0145g0128	10	300	0.0333	-17	c.203 others(33): Show c.2030-101_2030-85delTGGTGTGTGTGTGTGGT		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21						chr19	TogoVar
INSYN2B_chr5_169856303_169985495	169977003	GTCCTGGG others(10): Show GTCCTGGGTAACCAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	318	0.0031	-17	c.-91 others(36): Show c.-919+3257_-919+3273delTCTTTGGTTACCCAGGA		INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3						chr5	TogoVar
INTS11_chr1_1306600_1329660	1310876	CGGCTCTG others(10): Show CGGCTCTGGGTCACAGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01361.hp2 HG02257.hp1 others(1): Show HG00738.hp1 HG01361.hp2 HG02257.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0014 a0001c0003 a0002c0014	a0001c0003t0001 a0002c0014t0001 a0001c0003t0001 a0002c0014t0001	a0001c0003t0001g0033 a0001c0003t0001g0121 a0002c0014t0001g0122 a0001c0003t0001g0033 a0001c0003t0001g0121 a0002c0014t0001g0122	4	354	0.0113	-17	c.96 others(26): Show c.966_*982delACCTGTGACCCAGAGCC		INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding					723		chr1	TogoVar
INTS13_chr12_26900181_26942981	26900279	TATATGCA others(10): Show TATATGCACCTAATACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	388	0.0026	-17	c.52 others(28): Show c.5201_*5217delCTGTATTAGGTGCATAT		INTS13	ENSG00000064102.15	transcript	ENST00000261191.12	protein_coding					4901		chr12	TogoVar
INTS14_chr15_65573757_65616131	65581547	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	322	0.0031	-17	c.130 others(34): Show c.1305+390_1305+406delTTTTTTTTTTTTTTTTT		INTS14	ENSG00000138614.16	transcript	ENST00000313182.7	protein_coding	11/11						chr15	TogoVar
INTS15_chr7_6585021_6613726	6598770	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18944.hp1 HG02129.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0266 a0001c0001t0001g0059 a0001c0001t0001g0266	2	394	0.0051	-17	c.581 others(34): Show c.581-1058_581-1042delGTGTGTGTGTGTGTGTA		INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding	3/5						chr7	TogoVar
INTS1_chr7_1465277_1509389	1498589	ACGCCTGT others(10): Show ACGCCTGTGCCCCCACTC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG03098.hp1 others(3): Show HG02280.hp2 HG02723.hp1 HG03098.hp1 HG03130.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0001c0019 a0001c0020 others(1): Show a0001c0018 a0001c0019 a0001c0020 a0002c0007	a0001c0018t0003 a0001c0019t0003 a0001c0020t0003 others(1): Show a0001c0018t0003 a0001c0019t0003 a0001c0020t0003 a0002c0007t0003	a0001c0018t0003g0108 a0001c0019t0003g0109 a0001c0020t0003g0110 others(2): Show a0001c0018t0003g0108 a0001c0019t0003g0109 a0001c0020t0003g0110 a0002c0007t0003g0027 a0002c0007t0003g0107	6	316	0.0190	-17	c.128 others(32): Show c.1284-53_1284-37delGAGTGGGGGCACAGGCG		INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	9/47						chr7	TogoVar
INTS1_chr7_1465277_1509389	1506537	CCTCCTCC others(10): Show CCTCCTCCTCCCCCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01361.hp2 HG02129.hp2 others(2): Show HG01070.hp1 HG01361.hp2 HG02129.hp2 HG02145.hp2 NA18997.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0033 a0001c0001 a0008c0033	a0001c0001t0001 a0001c0001t0004 a0008c0033t0008 a0001c0001t0001 a0001c0001t0004 a0008c0033t0008	a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0004g0036 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0004g0036 a0008c0033t0008g0118	5	316	0.0158	-17	c.-22 others(28): Show c.-2273_-2257delAGGAGGGGGAGGAGGAG		INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding					2149		chr7	TogoVar
INTS2_chr17_61860367_61932982	61901577	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0341	1	366	0.0027	-17	c.130 others(36): Show c.1307+2866_1307+2882delAAAAAAAAAAAAAAAAA		INTS2	ENSG00000108506.14	transcript	ENST00000251334.7	protein_coding	9/24						chr17	TogoVar
INTS2_chr17_61860367_61932982	61920802	CAAAAAAA others(10): Show CAAAAAAAAAAGACAAGG	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	366	0.0027	-17	c.535 others(32): Show c.535+906_535+922delCCTTGTCTTTTTTTTTT		INTS2	ENSG00000108506.14	transcript	ENST00000251334.7	protein_coding	4/24						chr17	TogoVar
INTS3_chr1_153723050_153779808	153744065	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	349	0.0029	-17	c.318 others(34): Show c.318+2699_318+2715delGTGTGTGTGTGTGTGTT		INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr1	TogoVar
INTS4_chr11_77873720_77999668	77926821	AAAAAAGG others(10): Show AAAAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	362	0.0028	-17	c.137 others(36): Show c.1371+1504_1371+1520delCCTTTCCTTTCCTTTTT		INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	11/22						chr11	TogoVar
INTS5_chr11_62641848_62658302	62653805	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-17	c.-57 others(26): Show c.-573_-557delCTCTCTCTCTCTCTCTC		INTS5	ENSG00000185085.2	transcript	ENST00000330574.2	protein_coding					504		chr11	TogoVar
INTS7_chr1_211935403_212040557	211971920	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp1 HG02559.hp2 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0021 a0002c0007t0022 a0002c0003t0021 a0002c0007t0022	a0002c0003t0021g0321 a0002c0007t0022g0322 a0002c0003t0021g0321 a0002c0007t0022g0322	2	352	0.0057	-17	c.181 others(36): Show c.1815+3229_1816-3214delCTTTTTTTTTTTTTTTT		INTS7	ENSG00000143493.13	transcript	ENST00000366994.8	protein_coding	13/19						chr1	TogoVar
INVS_chr9_100094243_100307175	100194475	ATCGTCTT others(10): Show ATCGTCTTATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00423.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0166 a0001c0002t0008g0168 a0001c0002t0008g0166 a0001c0002t0008g0168	2	182	0.0110	-17	c.274 others(36): Show c.274-31585_274-31569delCGTCTTATATATAAATT		INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr9	TogoVar
IPCEF1_chr6_154149496_154361803	154180340	AAGGAGAC others(10): Show AAGGAGACATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp2 HG03486.hp2 HG02970.hp2 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140	3	264	0.0114	-17	c.911 others(36): Show c.911-12244_911-12228delATATATATATGTCTCCT		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	10/11						chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154273707	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00609.hp2 others(51): Show HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01175.hp1 HG01361.hp1 HG01943.hp1 HG01981.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02683.hp2 HG02735.hp2 HG02970.hp1 HG03492.hp1 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18941.hp2 NA18950.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18993.hp2 NA19003.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19078.hp1 NA19084.hp1 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0005c0006t0001	a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0053 others(51): Show a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0116 a0001c0001t0002g0161 a0001c0001t0002g0185 a0001c0001t0002g0214 a0001c0001t0003g0034 a0001c0001t0003g0072 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0160 a0001c0001t0003g0175 a0001c0001t0003g0186 a0001c0001t0003g0198 a0001c0001t0003g0206 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0227 a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0005g0144 a0001c0001t0006g0038 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0010g0049 a0001c0001t0010g0207 a0001c0001t0010g0222 a0001c0001t0014g0110 a0001c0001t0014g0111 a0005c0006t0001g0050	54	264	0.2046	-17	c.-17 others(34): Show c.-17-7760_-17-7744delGAAAGAAAGAAAGAAAG		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	2/11						chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154288667	CAAAAAAA others(10): Show CAAAAAAAACAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00733.hp2 others(66): Show HG00544.hp2 HG00609.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01891.hp2 HG02071.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18950.hp2 NA18957.hp2 NA18959.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19084.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0006 a0001c0001 a0003c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0021 a0003c0004t0004 a0005c0006t0001	a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0055 others(66): Show a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0001g0228 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0120 a0001c0001t0002g0161 a0001c0001t0002g0168 a0001c0001t0002g0195 a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0059 a0001c0001t0003g0092 a0001c0001t0003g0125 a0001c0001t0003g0134 a0001c0001t0003g0175 a0001c0001t0003g0213 a0001c0001t0003g0227 a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0004g0019 a0001c0001t0004g0100 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0155 a0001c0001t0004g0251 a0001c0001t0004g0256 a0001c0001t0005g0002 a0001c0001t0005g0082 a0001c0001t0005g0090 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0244 a0001c0001t0005g0247 a0001c0001t0005g0250 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0006g0038 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0009g0106 a0001c0001t0009g0183 a0001c0001t0010g0049 a0001c0001t0010g0222 a0001c0001t0014g0110 a0001c0001t0014g0111 a0001c0001t0021g0045 a0003c0004t0004g0065 a0005c0006t0001g0050	69	264	0.2614	-17	c.-18 others(34): Show c.-18+1029_-18+1045delTTTTTTTTGTTTTTTTT		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	2/11						chr6	TogoVar
IPO5_chr13_97948675_98029296	97983962	CTTCTTTT others(10): Show CTTCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	380	0.0026	-17	c.171 others(34): Show c.171+1382_171+1398delCTTTTTTTTTTTTTTTT		IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	5/28					INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO5_chr13_97948675_98029296	97984928	TTAGGTAT others(10): Show TTAGGTATCGGGAACTCG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01981.hp1 HG01891.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0188 a0001c0001t0001g0070 a0001c0001t0001g0188	2	380	0.0053	-17	c.172 others(32): Show c.172-490_172-474delGGTATCGGGAACTCGTA		IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	5/28					INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO5_chr13_97948675_98029296	98006356	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0056 a0001c0002t0004g0056	1	380	0.0026	-17	c.171 others(32): Show c.1716+28_1716+44delTTTTTTTTTTTTTTTTT		IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	17/28					INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO7_chr11_9379652_9453127	9436858	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18989.hp1 NA19080.hp2 HG02071.hp1 NA18989.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0210 a0001c0001t0002g0259 a0001c0001t0002g0177 a0001c0001t0002g0210 a0001c0001t0002g0259	3	314	0.0096	-17	c.226 others(34): Show c.2268+494_2268+510delATATATATATTTTTTTT		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436860	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01934.hp1 HG02056.hp1 others(11): Show HG00673.hp2 HG01934.hp1 HG02056.hp1 HG02300.hp2 HG02738.hp2 NA18612.hp1 NA18948.hp2 NA18949.hp2 NA18957.hp1 NA18992.hp1 NA19068.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0208 others(11): Show a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0292 a0001c0001t0009g0242 a0001c0001t0009g0245	14	314	0.0446	-17	c.226 others(34): Show c.2268+496_2268+512delATATATATTTTTTTTTT		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436862	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03130.hp2 NA18959.hp1 others(3): Show HG00140.hp2 HG03130.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0236 a0001c0001t0002g0246 a0001c0001t0002g0310 others(3): Show a0001c0001t0002g0236 a0001c0001t0002g0246 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0003g0041 a0001c0001t0008g0233	6	314	0.0191	-17	c.226 others(34): Show c.2268+498_2268+514delATATATTTTTTTTTTTT		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO9_chr1_201824157_201889291	201837038	GAGTCCAT others(10): Show GAGTCCATCTTAAAATAC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	396	0.0025	-17	c.163 others(34): Show c.163+7667_163+7683delAGTCCATCTTAAAATAC		IPO9	ENSG00000198700.10	transcript	ENST00000361565.9	protein_coding	1/23						chr1	TogoVar
IQANK1_chr8_143729139_143795645	143749510	TATAAAAA others(10): Show TATAAAAATATATATCAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02683.hp1 HG03669.hp2 HG02602.hp2 HG02683.hp1 HG03669.hp2	a0016 a0024 a0016 a0024	a0016c0014 a0024c0022 a0016c0014 a0024c0022	a0016c0014t0001 a0024c0022t0001 a0016c0014t0001 a0024c0022t0001	a0016c0014t0001g0057 a0016c0014t0001g0058 a0024c0022t0001g0059 a0016c0014t0001g0057 a0016c0014t0001g0058 a0024c0022t0001g0059	3	349	0.0086	-17	c.175 others(34): Show c.175+9575_175+9591delATCACATAAAAATATAT		IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143791130	CCCACCCC others(10): Show CCCACCCCAAGTCTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	349	0.0029	-17	c.52 others(26): Show c.523_*539delCCACCCCAAGTCTGGGG		IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding					486		chr8	TogoVar
IQCA1L_chr7_151185873_151210496	151207083	ACCACAAG others(10): Show ACCACAAGCCAGGTCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0038 a0038	a0038c0101 a0038c0101	a0038c0101t0001 a0038c0101t0001	a0038c0101t0001g0271 a0038c0101t0001g0271	1	448	0.0022	-17	c.-16 others(28): Show c.-1646_-1630delACAGACCTGGCTTGTGG		IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding					1588		chr7	TogoVar
IQCA1_chr2_236319151_236512476	236357682	ACAATATG others(10): Show ACAATATGTAAATATCTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG02630.hp1 others(6): Show HG02055.hp2 HG02615.hp2 HG02630.hp1 HG02895.hp2 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0009	a0001c0001t0001g0044 a0001c0001t0002g0191 a0001c0001t0004g0052 others(6): Show a0001c0001t0001g0044 a0001c0001t0002g0191 a0001c0001t0004g0052 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0005g0174 a0002c0002t0009g0065	9	208	0.0433	-17	c.186 others(36): Show c.1869+6081_1869+6097delCAGATATTTACATATTG		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18						chr2	TogoVar
IQCA1_chr2_236319151_236512476	236357960	TAATATAT others(10): Show TAATATATGAATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0007 a0011c0011t0007	a0011c0011t0007g0018 a0011c0011t0007g0018	1	208	0.0048	-17	c.186 others(36): Show c.1869+5803_1869+5819delGTATATATTCATATATT		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18						chr2	TogoVar
IQCB1_chr3_121764761_121840060	121770470	TCAGGGTT others(10): Show TCAGGGTTGTGAGATGGG	T T	frameshift_variant frameshift_variant	HIGH	NA19063.hp2 NA19063.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0007 a0007c0007t0007	a0007c0007t0007g0240 a0007c0007t0007g0240	1	308	0.0033	-17	c.165 others(26): Show c.1655_1671delCCCATCTCACAACCCTG	p.Ala others(5): Show p.Ala552fs	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	15/15	1867/2577	1655/1797	552/598			chr3	TogoVar
IQCE_chr7_2553979_2619728	2608224	GGGCGGAG others(10): Show GGGCGGAGGCCTCGCTTT	G G	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0024 a0024	a0024c0042 a0024c0042	a0024c0042t0074 a0024c0042t0074	a0024c0042t0074g0059 a0024c0042t0074g0059	1	416	0.0024	-17	c.196 others(35): Show c.1969+998_1969+1014delGGCGGAGGCCTCGCTTT		IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	21/21						chr7	TogoVar
IQCH_chr15_67249786_67506804	67441122	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	276	0.0036	-17	c.250 others(38): Show c.2505+19560_2505+19576delAAAAAAAAAAAAAAAAA		IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP1_chr15_90383242_90507239	90428721	GCAGTGAG others(10): Show GCAGTGAGCCGATTGTGC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01891.hp2 HG02809.hp1 others(2): Show HG01433.hp2 HG01891.hp2 HG02809.hp1 NA20129.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0001c0020 others(1): Show a0001c0001 a0001c0006 a0001c0020 a0006c0015	a0001c0001t0001 a0001c0006t0009 a0001c0006t0026 others(2): Show a0001c0001t0001 a0001c0006t0009 a0001c0006t0026 a0001c0020t0023 a0006c0015t0009	a0001c0001t0001g0254 a0001c0006t0009g0102 a0001c0006t0026g0103 others(2): Show a0001c0001t0001g0254 a0001c0006t0009g0102 a0001c0006t0026g0103 a0001c0020t0023g0354 a0006c0015t0009g0104	5	360	0.0139	-17	c.313 others(32): Show c.313-845_313-829delAGCCGATTGTGCCAGTG		IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76436511	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0045 a0008c0011t0005g0045	1	222	0.0045	-17	c.47- others(34): Show c.47-25057_47-25041delATATATTTTTTTTTTTT		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76496708	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02523.hp2 others(6): Show HG01891.hp2 HG02258.hp1 HG02523.hp2 HG02647.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA19007.hp2 NA19085.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0007 a0011 a0013	a0002c0001 a0002c0013 a0003c0027 others(5): Show a0002c0001 a0002c0013 a0003c0027 a0004c0005 a0005c0012 a0007c0010 a0011c0025 a0013c0019	a0002c0001t0001 a0002c0001t0012 a0002c0013t0001 others(6): Show a0002c0001t0001 a0002c0001t0012 a0002c0013t0001 a0003c0027t0008 a0004c0005t0012 a0005c0012t0005 a0007c0010t0007 a0011c0025t0005 a0013c0019t0001	a0002c0001t0001g0193 a0002c0001t0012g0081 a0002c0013t0001g0216 others(6): Show a0002c0001t0001g0193 a0002c0001t0012g0081 a0002c0013t0001g0216 a0003c0027t0008g0024 a0004c0005t0012g0159 a0005c0012t0005g0049 a0007c0010t0007g0040 a0011c0025t0005g0016 a0013c0019t0001g0217	9	222	0.0405	-17	c.146 others(36): Show c.146+35059_146+35075delTCTTTCTTTCTTTCTTT		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76696850	TTTCTATT others(10): Show TTTCTATTTAATGAAGAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00558.hp2 others(74): Show HG00099.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01258.hp1 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18957.hp1 NA18962.hp2 NA18968.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19062.hp1 NA19068.hp1 NA19068.hp2 NA19085.hp1 NA21309.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0016 a0021 a0023 a0025 a0027 a0030	a0001c0002 a0001c0003 a0001c0009 others(24): Show a0001c0002 a0001c0003 a0001c0009 a0001c0018 a0001c0041 a0001c0042 a0002c0001 a0002c0006 a0003c0004 a0003c0015 a0003c0040 a0005c0012 a0005c0017 a0006c0008 a0007c0010 a0007c0031 a0008c0011 a0009c0014 a0010c0044 a0011c0025 a0013c0019 a0016c0024 a0021c0028 a0023c0046 a0025c0051 a0027c0035 a0030c0053	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(35): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0003t0002 a0001c0003t0005 a0001c0009t0006 a0001c0018t0001 a0001c0041t0009 a0001c0042t0002 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0010 a0002c0006t0002 a0002c0006t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0003c0015t0002 a0003c0040t0009 a0005c0012t0002 a0005c0012t0005 a0005c0017t0005 a0006c0008t0002 a0007c0010t0002 a0007c0031t0008 a0008c0011t0005 a0009c0014t0009 a0010c0044t0005 a0011c0025t0005 a0013c0019t0001 a0016c0024t0002 a0021c0028t0010 a0023c0046t0002 a0025c0051t0002 a0027c0035t0002 a0030c0053t0003	a0001c0002t0002g0071 a0001c0002t0002g0111 a0001c0002t0002g0116 others(74): Show a0001c0002t0002g0071 a0001c0002t0002g0111 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0145 a0001c0002t0002g0151 a0001c0002t0002g0178 a0001c0002t0003g0205 a0001c0002t0005g0027 a0001c0002t0005g0030 a0001c0002t0005g0031 a0001c0002t0005g0052 a0001c0002t0005g0053 a0001c0002t0005g0221 a0001c0002t0014g0069 a0001c0003t0002g0073 a0001c0003t0002g0082 a0001c0003t0002g0179 a0001c0003t0002g0188 a0001c0003t0002g0197 a0001c0003t0002g0201 a0001c0003t0005g0032 a0001c0009t0006g0220 a0001c0018t0001g0125 a0001c0041t0009g0172 a0001c0042t0002g0160 a0002c0001t0002g0104 a0002c0001t0002g0115 a0002c0001t0002g0121 a0002c0001t0002g0137 a0002c0001t0002g0142 a0002c0001t0002g0148 a0002c0001t0002g0153 a0002c0001t0002g0162 a0002c0001t0002g0169 a0002c0001t0002g0218 a0002c0001t0003g0123 a0002c0001t0003g0132 a0002c0001t0003g0194 a0002c0001t0005g0008 a0002c0001t0005g0013 a0002c0001t0005g0042 a0002c0001t0010g0064 a0002c0006t0002g0084 a0002c0006t0002g0085 a0002c0006t0002g0098 a0002c0006t0003g0110 a0003c0004t0001g0107 a0003c0004t0002g0136 a0003c0004t0002g0202 a0003c0004t0002g0212 a0003c0004t0005g0018 a0003c0004t0005g0050 a0003c0015t0002g0144 a0003c0040t0009g0119 a0005c0012t0002g0140 a0005c0012t0005g0049 a0005c0012t0005g0063 a0005c0017t0005g0005 a0006c0008t0002g0103 a0006c0008t0002g0130 a0007c0010t0002g0166 a0007c0031t0008g0010 a0008c0011t0005g0045 a0009c0014t0009g0126 a0009c0014t0009g0129 a0009c0014t0009g0215 a0010c0044t0005g0061 a0011c0025t0005g0016 a0011c0025t0005g0041 a0013c0019t0001g0217 a0016c0024t0002g0170 a0021c0028t0010g0066 a0023c0046t0002g0176 a0025c0051t0002g0112 a0027c0035t0002g0186 a0030c0053t0003g0195	77	222	0.3469	-17	c.420 others(36): Show c.4207-1118_4207-1102delTCTATTTAATGAAGAAT		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQSEC2_chrX_53227876_53326350	53284110	GTGGTTTG others(10): Show GTGGTTTGGGACAGGCAT	G G	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0005 a0002c0006t0001g0005	1	213	0.0047	-17	c.737 others(34): Show c.737+7768_737+7784delATGCCTGTCCCAAACCA		IQSEC2	ENSG00000124313.19	transcript	ENST00000642864.1	protein_coding	2/14						chrX	TogoVar
IQSEC3_chr12_61767_183455	179572	AAACTTGA others(10): Show AAACTTGACCTCACCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0046 a0002c0015t0046	a0002c0015t0046g0224 a0002c0015t0046g0224	1	282	0.0036	-17	c.45 others(28): Show c.4540_*4556delAACTTGACCTCACCCTC		IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding					1118		chr12	TogoVar
IRAG2_chr12_25047706_25113335	25050535	ACAAACAA others(10): Show ACAAACAAACAAACAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0032 a0003c0003t0005g0032	1	344	0.0029	-17	c.-28 others(28): Show c.-2867_-2851delCAAACAAACAAACAAAC		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding					2170		chr12	TogoVar
IRF2BPL_chr14_77019543_77033708	77024914	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp1 NA19067.hp1 HG06807.hp1 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0004 a0001c0006 a0003c0004	a0001c0006t0084 a0003c0004t0077 a0001c0006t0084 a0003c0004t0077	a0001c0006t0084g0000 a0003c0004t0077g0000 a0001c0006t0084g0000 a0003c0004t0077g0000	2	414	0.0048	-17	c.47 others(26): Show c.471_*487delAAAAAAAAAAAAAAAAA		IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1				471		chr14	TogoVar
IRF4_chr6_386752_416443	396624	TCCTGCAC others(10): Show TCCTGCACTCCTTTACCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0142 a0001c0001t0014g0142	1	460	0.0022	-17	c.493 others(32): Show c.493-481_493-465delTGCACTCCTTTACCCCC		IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
IRF4_chr6_386752_416443	396934	TCTCCTGC others(10): Show TCTCCTGCACTCCTTTAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02055.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0176 a0001c0001t0012g0177 a0001c0001t0012g0176 a0001c0001t0012g0177	2	460	0.0044	-17	c.493 others(32): Show c.493-172_493-156delTCCTGCACTCCTTTACC		IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
IRF4_chr6_386752_416443	397038	TCTCCTGC others(10): Show TCTCCTGCACTCCTTTAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp1 others(28): Show HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG01361.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp2 HG02080.hp1 HG02258.hp1 HG03209.hp1 NA18940.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18965.hp2 NA18968.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA19010.hp2 NA19054.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 a0001c0001t0033 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0034	a0001c0001t0002g0022 a0001c0001t0002g0089 a0001c0001t0002g0215 others(16): Show a0001c0001t0002g0022 a0001c0001t0002g0089 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0005g0189 a0001c0001t0012g0176 a0001c0001t0012g0177 a0001c0001t0016g0209 a0001c0001t0033g0022 a0001c0001t0051g0084 a0001c0002t0001g0023 a0001c0002t0001g0043 a0001c0002t0002g0008 a0001c0002t0002g0043 a0001c0002t0002g0140 a0001c0002t0002g0146 a0001c0002t0002g0149 a0001c0002t0004g0147 a0001c0002t0034g0148	31	460	0.0674	-17	c.493 others(30): Show c.493-68_493-52delTCCTGCACTCCTTTACC		IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
IRF5_chr7_128932927_128955038	128943707	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00642.hp2 others(20): Show HG00099.hp1 HG00140.hp1 HG00642.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01258.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02698.hp1 HG03017.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG04184.hp2 NA18997.hp2 NA19063.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009	a0002c0002t0002g0006 a0002c0002t0002g0044 a0002c0002t0002g0092 others(13): Show a0002c0002t0002g0006 a0002c0002t0002g0044 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0106 a0002c0002t0002g0119 a0002c0002t0003g0065 a0002c0002t0009g0006 a0002c0002t0009g0101	23	404	0.0569	-17	c.195 others(34): Show c.195+1450_195+1466delTTTTTTTTTTTTTTTTT		IRF5	ENSG00000128604.21	transcript	ENST00000357234.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
IRF9_chr14_24156265_24171565	24164638	TCTACAAC others(10): Show TCTACAACGGGCGCGTGG	T T	frameshift_variant frameshift_variant	HIGH	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0002 a0003c0008t0001g0002	1	438	0.0023	-17	c.675 others(24): Show c.675_691delCTACAACGGGCGCGTGG	p.Tyr others(5): Show p.Tyr226fs	IRF9	ENSG00000213928.10	transcript	ENST00000396864.8	protein_coding	7/9	750/1626	675/1182	225/393			chr14	TogoVar
ISG20L2_chr1_156716895_156733766	156722670	TCTCGGCT others(10): Show TCTCGGCTCACTGCAATC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0077 a0001c0001t0034g0077	1	404	0.0025	-17	c.66 others(26): Show c.662_*678delGATTGCAGTGAGCCGAG		ISG20L2	ENSG00000143319.17	transcript	ENST00000368219.2	protein_coding	4/4				662		chr1	TogoVar
ISM2_chr14_77469394_77503816	77496799	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00741.hp1 others(13): Show HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01123.hp1 HG01257.hp1 HG01981.hp1 HG01993.hp1 HG02148.hp2 HG02735.hp2 HG02818.hp1 HG04204.hp1 NA18946.hp2 NA18967.hp1 NA19081.hp2 NA20300.hp1 NA20752.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0002c0003 a0002c0015 others(1): Show a0002c0002 a0002c0003 a0002c0015 a0010c0022	a0002c0002t0008 a0002c0003t0001 a0002c0003t0007 others(2): Show a0002c0002t0008 a0002c0003t0001 a0002c0003t0007 a0002c0015t0001 a0010c0022t0001	a0002c0002t0008g0075 a0002c0003t0001g0016 a0002c0003t0001g0250 others(11): Show a0002c0002t0008g0075 a0002c0003t0001g0016 a0002c0003t0001g0250 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0007g0260 a0002c0015t0001g0015 a0010c0022t0001g0248	16	280	0.0571	-17	c.141 others(34): Show c.141+1837_141+1853delTTTTTTTTTTTTTTTTT		ISM2	ENSG00000100593.18	transcript	ENST00000342219.9	protein_coding	1/6						chr14	TogoVar
ISOC2_chr19_55447985_55466642	55448808	ACACATAC others(10): Show ACACATACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG03225.hp1 others(1): Show HG00639.hp2 HG00642.hp1 HG03225.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0020 a0001c0003t0004g0102 a0001c0003t0004g0020 a0001c0003t0004g0102	4	380	0.0105	-17	c.44 others(28): Show c.4483_*4499delGTGTGTGTGTGTATGTG		ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding					4176		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55448870	TACACACA others(10): Show TACACACACCACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	380	0.0026	-17	c.44 others(28): Show c.4421_*4437delGTGTGTGTGGTGTGTGT		ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding					4114		chr19	TogoVar

Search by Variant

Search

Search Results (Total: 9132 hits)