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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IPCEF1_chr6_154149496_154361803	154357757	AATATATA others(15): Show AATATATAAAATATATATATTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	264	0.0038	-22	c.-11 others(33): Show c.-1169_-1148delATAATATATATATTTTATATAT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		955		chr6	TogoVar
IPO8_chr12_30623988_30700869	30698739	CGCGTGTG others(15): Show CGCGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0272 a0001c0007t0008g0272	1	376	0.0027	-22	c.-31 others(33): Show c.-3114_-3093delACACACACACACACACACACGC	IPO8	ENSG00000133704.10	transcript	ENST00000256079.9	protein_coding		2871		chr12	TogoVar
IQCA1_chr2_236319151_236512476	236326792	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG03540.hp2 HG02615.hp1 HG02896.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0018 a0004c0010 a0001c0001 a0001c0018 a0004c0010	a0001c0001t0007 a0001c0018t0005 a0004c0010t0005 a0001c0001t0007 a0001c0018t0005 a0004c0010t0005	a0001c0001t0007g0022 a0001c0018t0005g0168 a0004c0010t0005g0199 a0001c0001t0007g0022 a0001c0018t0005g0168 a0004c0010t0005g0199	3	208	0.0144	-22	c.237 others(41): Show c.2374-2031_2374-2010delCACACACACACACACACACACA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	18/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236416721	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp1 NA18522.hp2 others(1): Show HG02647.hp2 HG03516.hp1 NA18522.hp2 NA20129.hp1	a0001 a0006 a0012 a0001 a0006 a0012	a0001c0019 a0006c0009 a0012c0012 a0001c0019 a0006c0009 a0012c0012	a0001c0019t0001 a0006c0009t0005 a0012c0012t0005 a0001c0019t0001 a0006c0009t0005 a0012c0012t0005	a0001c0019t0001g0106 a0006c0009t0005g0066 a0006c0009t0005g0136 others(1): Show a0001c0019t0001g0106 a0006c0009t0005g0066 a0006c0009t0005g0136 a0012c0012t0005g0193	4	208	0.0192	-22	c.113 others(41): Show c.1134+2406_1134+2427delTATATATATATATATATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	8/18			chr2	TogoVar
IQCJ_chr3_159064319_159268747	159116614	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0073 a0002c0003t0001g0073	1	252	0.0040	-22	c.9+4 others(37): Show c.9+47208_9+47229delTATATATATATATATATATATA	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159116649	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02622.hp2 HG02809.hp1 others(1): Show HG02602.hp2 HG02622.hp2 HG02809.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0061 a0001c0001t0002g0091 a0001c0001t0002g0227 others(1): Show a0001c0001t0001g0061 a0001c0001t0002g0091 a0001c0001t0002g0227 a0003c0004t0001g0173	4	252	0.0159	-22	c.9+4 others(37): Show c.9+47210_9+47231delTATATATATATATATATATACA	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCM_chr4_149346709_149820843	149368786	ATATATAT others(15): Show ATATATATACATATATATACATG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03453.hp2 NA19240.hp2 HG02647.hp2 HG03453.hp2 NA19240.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0008 a0004c0006t0001g0097 a0004c0006t0001g0231 a0004c0006t0001g0008 a0004c0006t0001g0097 a0004c0006t0001g0231	3	252	0.0119	-22	c.139 others(43): Show c.1391-16742_1391-16721delCATGTATATATATGTATATATA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149368976	GTATATAT others(15): Show GTATATATATACACGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	252	0.0040	-22	c.139 others(43): Show c.1391-16932_1391-16911delTATATACACGTGTATATATATA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149582307	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01891.hp2 HG02109.hp2 others(18): Show HG00621.hp2 HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02572.hp2 HG02723.hp2 HG02896.hp2 HG02965.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp1 NA18906.hp2 NA18952.hp2 NA18959.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA19030.hp2 NA19062.hp2 NA20752.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0012 a0001c0001 a0001c0002 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0011c0012t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0026 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0096 a0001c0001t0001g0127 a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0002g0010 a0001c0001t0002g0025 a0001c0001t0002g0065 a0001c0001t0002g0169 a0001c0001t0002g0186 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0241 a0001c0001t0002g0248 a0001c0002t0001g0067 a0001c0002t0001g0152 a0001c0002t0002g0155 a0011c0012t0001g0084	21	252	0.0833	-22	c.749 others(39): Show c.749+5601_749+5622delATATATATATATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	9/13			chr4	TogoVar
IQGAP1_chr15_90383242_90507239	90422624	ATGTATAT others(15): Show ATGTATATATATATATGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01361.hp2 HG02622.hp1 others(6): Show HG00558.hp2 HG01361.hp2 HG02622.hp1 HG02683.hp2 HG03130.hp2 NA18612.hp1 NA18945.hp1 NA18960.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0002t0005 a0001c0001t0001 a0001c0002t0004 a0001c0002t0005	a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0248 others(6): Show a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0002t0004g0086 a0001c0002t0004g0100 a0001c0002t0004g0263 a0001c0002t0005g0032 a0001c0002t0005g0044	9	360	0.0250	-22	c.156 others(39): Show c.156-3484_156-3463delGTATATATATATATGTATATGT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP1_chr15_90383242_90507239	90433579	TGAATGCC others(15): Show TGAATGCCACCGATGTTTTCTAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01346.hp2 others(2): Show HG00140.hp2 HG00323.hp1 HG01346.hp2 HG01358.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 others(2): Show a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0168	5	360	0.0139	-22	c.391 others(36): Show c.391-117_391-96delGAATGCCACCGATGTTTTCTAA	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76496743	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0001 a0003c0027t0001	a0003c0027t0001g0101 a0003c0027t0001g0101	1	222	0.0045	-22	c.146 others(41): Show c.146+35076_146+35097delCTTTCTTTCTTTCTTTCTTTCT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76676077	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp1 HG02965.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0190 a0001c0002t0001g0191	2	222	0.0090	-22	c.352 others(41): Show c.3528-1116_3528-1095delCACACACACACACACACACACA	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP3_chr1_156520405_156577565	156523203	AGATCAAG others(15): Show AGATCAAGGCTTCAGTGAGCCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG03041.hp1 others(1): Show HG02109.hp1 HG02145.hp1 HG03041.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0051 a0003c0003t0004g0053 a0003c0003t0004g0054 others(1): Show a0003c0003t0004g0051 a0003c0003t0004g0053 a0003c0003t0004g0054 a0003c0003t0004g0062	4	340	0.0118	-22	c.32 others(33): Show c.3261_*3282delATGGCTCACTGAAGCCTTGATC	IQGAP3	ENSG00000183856.11	transcript	ENST00000361170.7	protein_coding		2201		chr1	TogoVar
IQSEC1_chr3_12892043_13078429	13038262	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0069 a0001c0001t0013g0069	1	250	0.0040	-22	c.23+ others(39): Show c.23+34708_23+34729delTATATATATATATATATATATA	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	1/13			chr3	TogoVar
IQSEC3_chr12_61767_183455	76086	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0018 a0012c0023t0018	a0012c0023t0018g0276 a0012c0023t0018g0276	1	282	0.0036	-22	c.554 others(39): Show c.554+8675_554+8696delCACACACACACACACACACACA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK3_chr12_66184214_66259622	66204778	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp2 HG02723.hp1 others(3): Show HG01243.hp2 HG01346.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0104 a0002c0003t0001 a0002c0003t0005 others(1): Show a0002c0002t0104 a0002c0003t0001 a0002c0003t0005 a0002c0003t0008	a0002c0002t0104g0031 a0002c0003t0001g0029 a0002c0003t0001g0032 others(3): Show a0002c0002t0104g0031 a0002c0003t0001g0029 a0002c0003t0001g0032 a0002c0003t0005g0027 a0002c0003t0005g0030 a0002c0003t0008g0028	6	346	0.0173	-22	c.316 others(37): Show c.316+906_316+927delCACACACACACACACACACACA	IRAK3	ENSG00000090376.11	transcript	ENST00000261233.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRX4_chr5_1872413_1887925	1884817	CCCCACCC others(15): Show CCCCACCCTCCTTCCTCCCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19086.hp1 NA19078.hp1 NA19086.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0021 a0001c0002 a0007c0021	a0001c0002t0002 a0007c0021t0002 a0001c0002t0002 a0007c0021t0002	a0001c0002t0002g0012 a0007c0021t0002g0097 a0001c0002t0002g0012 a0007c0021t0002g0097	2	436	0.0046	-22	c.-21 others(33): Show c.-2192_-2171delAGAGGGGAGGAAGGAGGGTGGG	IRX4	ENSG00000113430.10	transcript	ENST00000231357.7	protein_coding		1893		chr5	TogoVar
ISCU_chr12_108557596_108574368	108573911	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	446	0.0022	-22	c.49 others(33): Show c.4996_*5017delTTTTTTTTTTTTTTTTTTTTTT	ISCU	ENSG00000136003.16	transcript	ENST00000311893.14	protein_coding		4544		chr12	TogoVar
ISLR2_chr15_74125586_74141802	74126932	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	398	0.0050	-22	c.-38 others(33): Show c.-3807_-3786delTGTGTGTGTGTGTGTGTGTGTC	ISLR2	ENSG00000167178.17	transcript	ENST00000453268.3	protein_coding		3653		chr15	TogoVar
ISM1_chr20_13216274_13305651	13268347	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01928.hp2 HG02080.hp1 others(20): Show HG00735.hp2 HG01928.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp2 HG02273.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03471.hp1 HG06807.hp2 NA18956.hp1 NA18960.hp2 NA18970.hp2 NA18980.hp1 NA18995.hp2 NA19057.hp2 NA19088.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0028 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0002c0003t0001 a0002c0006t0003	a0001c0001t0001g0122 a0001c0001t0001g0154 a0001c0001t0001g0183 others(19): Show a0001c0001t0001g0122 a0001c0001t0001g0154 a0001c0001t0001g0183 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0006g0134 a0001c0001t0006g0138 a0001c0001t0010g0153 a0001c0001t0010g0155 a0001c0001t0011g0364 a0001c0001t0019g0144 a0001c0001t0028g0147 a0001c0001t0034g0167 a0001c0002t0001g0215 a0001c0002t0003g0039 a0002c0003t0001g0002 a0002c0003t0001g0013 a0002c0003t0001g0315 a0002c0003t0001g0375 a0002c0006t0003g0017	23	396	0.0581	-22	c.139 others(39): Show c.139-2121_139-2100delTCTCTCTCTCTCTCTCTCTCTC	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ISOC1_chr5_129089749_129119028	129090627	ATGAGGGA others(15): Show ATGAGGGAATGCTAGTCATTAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19009.hp1 NA19002.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0074 a0001c0001t0001g0031 a0001c0001t0001g0074	2	418	0.0048	-22	c.-41 others(33): Show c.-4139_-4118delTGAGGGAATGCTAGTCATTAAG	ISOC1	ENSG00000066583.12	transcript	ENST00000173527.6	protein_coding		4121		chr5	TogoVar
ISOC2_chr19_55447985_55466642	55450339	TGGGGGAC others(15): Show TGGGGGACAGAGACCCAGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	380	0.0026	-22	c.29 others(33): Show c.2947_*2968delTCTCTCTGGGTCTCTGTCCCCC	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		2645		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55450610	AGGGGACA others(15): Show AGGGGACAGAGACCCAGAGACAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18941.hp2 NA18945.hp2 others(1): Show NA18940.hp2 NA18941.hp2 NA18945.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0003g0036 a0001c0001t0002g0001 a0001c0001t0003g0036	4	380	0.0105	-22	c.26 others(33): Show c.2676_*2697delCTGTCTCTGGGTCTCTGTCCCC	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		2374		chr19	TogoVar
ISY1_chr3_129122415_129166063	129161431	TTCCGGTA others(15): Show TTCCGGTAGCGCCGGCACGCGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	366	0.0027	-22	c.-47 others(31): Show c.-478_-457delGCCGCGTGCCGGCGCTACCGGA	ISY1	ENSG00000240682.10	transcript	ENST00000393295.8	protein_coding		369		chr3	TogoVar
ISY1_chr3_129122415_129166063	129161462	ACGCAGAC others(15): Show ACGCAGACGTGTGATGGGGCTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01169.hp1 HG00280.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0208 a0001c0001t0001g0013 a0001c0001t0001g0208	2	366	0.0055	-22	c.-50 others(31): Show c.-509_-488delAAAGCCCCATCACACGTCTGCG	ISY1	ENSG00000240682.10	transcript	ENST00000393295.8	protein_coding		400		chr3	TogoVar
ITFG1_chr16_47149391_47466063	47433857	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02897.hp1 others(3): Show HG02630.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0072 a0001c0002t0002g0081 a0001c0002t0002g0089 others(3): Show a0001c0002t0002g0072 a0001c0002t0002g0081 a0001c0002t0002g0089 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0095	6	110	0.0546	-22	c.561 others(39): Show c.561-4981_561-4960delATATATATATATATATATATAT	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	5/17			chr16	TogoVar
ITGA10_chr1_145886208_145915050	145903002	GACACACA others(15): Show GACACACACACACACACACACAT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01106.hp2 others(8): Show HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01346.hp1 HG02148.hp2 HG03704.hp2 HG04228.hp2 HG06807.hp1 NA18941.hp2 NA18950.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0003 a0002c0003t0002 a0002c0003t0003	a0002c0003t0002g0046 a0002c0003t0002g0099 a0002c0003t0002g0101 others(7): Show a0002c0003t0002g0046 a0002c0003t0002g0099 a0002c0003t0002g0101 a0002c0003t0002g0115 a0002c0003t0002g0126 a0002c0003t0002g0127 a0002c0003t0002g0156 a0002c0003t0003g0089 a0002c0003t0003g0143 a0002c0003t0003g0159	11	390	0.0282	-22	c.759 others(35): Show c.759-63_759-42delATGTGTGTGTGTGTGTGTGTGT	ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding	7/29			chr1	TogoVar
ITGA11_chr15_68291532_68437163	68302055	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0041 a0003c0014t0041	a0003c0014t0041g0233 a0003c0014t0041g0233	1	242	0.0041	-22	c.98 others(32): Show c.982_*1003delACACACACACACACACACACAC	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	30/30	982		chr15	TogoVar
ITGA11_chr15_68291532_68437163	68342997	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0005 a0005	a0005c0071 a0005c0071	a0005c0071t0100 a0005c0071t0100	a0005c0071t0100g0210 a0005c0071t0100g0210	1	242	0.0041	-22	c.113 others(41): Show c.1132-3375_1132-3354delGAGAGAGAGAGAGAGAGAGAGA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	10/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68360003	GGCTTTGA others(15): Show GGCTTTGAGTTGGGACGCCTGTT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0017 a0017	a0017c0073 a0017c0073	a0017c0073t0061 a0017c0073t0061	a0017c0073t0061g0137 a0017c0073t0061g0137	1	242	0.0041	-22	c.473 others(39): Show c.473-1440_473-1419delAACAGGCGTCCCAACTCAAAGC	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	5/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68397132	ATAAATTA others(15): Show ATAAATTATTATATATTAATTAT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0100 a0003c0004t0003g0100	1	242	0.0041	-22	c.164 others(39): Show c.164+5764_164+5785delATAATTAATATATAATAATTTA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA1_chr5_52782916_52964209	52892375	TTAGACAT others(15): Show TTAGACATTTCTGATGGGAATAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG02922.hp2 others(5): Show HG01884.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0006 a0004c0016 a0001c0001 a0002c0006 a0004c0016	a0001c0001t0005 a0001c0001t0052 a0001c0001t0058 others(4): Show a0001c0001t0005 a0001c0001t0052 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0002c0006t0002 a0004c0016t0045	a0001c0001t0005g0134 a0001c0001t0052g0317 a0001c0001t0058g0021 others(5): Show a0001c0001t0005g0134 a0001c0001t0052g0317 a0001c0001t0058g0021 a0001c0001t0061g0178 a0001c0001t0062g0225 a0002c0006t0002g0019 a0002c0006t0002g0177 a0004c0016t0045g0248	8	322	0.0248	-22	c.925 others(39): Show c.925-1297_925-1276delGACATTTCTGATGGGAATAGTA	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52962739	CACACACA others(15): Show CACACACACACACACACATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp1 others(39): Show HG00408.hp1 HG00408.hp2 HG00597.hp1 HG01257.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp2 HG02055.hp1 HG02109.hp2 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02886.hp2 HG02896.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03831.hp2 NA18957.hp2 NA18977.hp2 NA18978.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp2 NA19001.hp2 NA19010.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19066.hp2 NA19077.hp1 NA19081.hp1 NA19085.hp1 NA20129.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0002 a0001c0003 a0002c0006 others(6): Show a0001c0002 a0001c0003 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0006c0024 a0009c0020	a0001c0002t0069 a0001c0003t0046 a0001c0003t0064 others(17): Show a0001c0002t0069 a0001c0003t0046 a0001c0003t0064 a0002c0006t0002 a0002c0006t0019 a0002c0006t0023 a0002c0006t0026 a0002c0006t0035 a0002c0006t0070 a0002c0007t0002 a0002c0007t0019 a0002c0009t0002 a0002c0009t0048 a0002c0010t0002 a0002c0010t0019 a0002c0010t0023 a0002c0010t0035 a0002c0013t0044 a0006c0024t0002 a0009c0020t0001	a0001c0002t0069g0104 a0001c0003t0046g0279 a0001c0003t0064g0054 others(39): Show a0001c0002t0069g0104 a0001c0003t0046g0279 a0001c0003t0064g0054 a0002c0006t0002g0014 a0002c0006t0002g0019 a0002c0006t0002g0022 a0002c0006t0002g0033 a0002c0006t0002g0040 a0002c0006t0002g0045 a0002c0006t0002g0078 a0002c0006t0002g0177 a0002c0006t0002g0238 a0002c0006t0002g0240 a0002c0006t0019g0066 a0002c0006t0019g0213 a0002c0006t0023g0312 a0002c0006t0026g0287 a0002c0006t0026g0307 a0002c0006t0035g0222 a0002c0006t0070g0006 a0002c0007t0002g0011 a0002c0007t0002g0042 a0002c0007t0002g0047 a0002c0007t0002g0057 a0002c0007t0002g0099 a0002c0007t0002g0152 a0002c0007t0002g0211 a0002c0007t0019g0121 a0002c0009t0002g0053 a0002c0009t0002g0147 a0002c0009t0002g0195 a0002c0009t0002g0212 a0002c0009t0048g0266 a0002c0010t0002g0084 a0002c0010t0002g0125 a0002c0010t0019g0151 a0002c0010t0023g0313 a0002c0010t0023g0314 a0002c0010t0035g0100 a0002c0013t0044g0284 a0006c0024t0002g0103 a0009c0020t0001g0142	42	322	0.1304	-22	c.10 others(35): Show c.10289_*10310delACACACACACACACACATATAT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3531		chr5	TogoVar
ITGA4_chr2_181452386_181543940	181490484	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18944.hp2 NA18991.hp1 others(1): Show HG02040.hp2 NA18944.hp2 NA18991.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 others(1): Show a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0205	4	368	0.0109	-22	c.115 others(41): Show c.1154-2820_1154-2799delGTGTGTGTGTGTGTGTGTGTGT	ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA8_chr10_15508954_15724922	15644433	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG02040.hp2 others(8): Show HG01074.hp2 HG01109.hp2 HG02040.hp2 HG02155.hp1 HG02155.hp2 HG03239.hp1 HG03942.hp1 HG04184.hp2 HG06807.hp1 NA18954.hp2 NA19002.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0002c0002t0013 a0007c0009t0002	a0001c0001t0001g0209 a0001c0001t0003g0133 a0001c0001t0003g0198 others(8): Show a0001c0001t0001g0209 a0001c0001t0003g0133 a0001c0001t0003g0198 a0001c0001t0004g0153 a0001c0001t0004g0204 a0001c0001t0006g0032 a0001c0001t0012g0020 a0001c0001t0012g0021 a0001c0001t0012g0023 a0002c0002t0013g0025 a0007c0009t0002g0100	11	220	0.0500	-22	c.120 others(39): Show c.1208-234_1208-213delATATATATATATATATATATAT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	12/29			chr10	TogoVar
ITGA9_chr3_37447141_37828507	37512013	CTTTTCTT others(15): Show CTTTTCTTTTCTTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0052 a0002c0002t0026g0052	1	168	0.0060	-22	c.898 others(39): Show c.898-1749_898-1728delTTTTCTTTTCTTTTCTTTCTTT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27			chr3	TogoVar
ITGA9_chr3_37447141_37828507	37512122	TTCTTTTC others(15): Show TTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0016 a0001c0030t0016	a0001c0030t0016g0002 a0001c0030t0016g0002	1	168	0.0060	-22	c.898 others(39): Show c.898-1639_898-1618delCTTTTCTTTTCTTTTCTTTTCT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA9_chr3_37447141_37828507	37530717	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04204.hp1 HG03453.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0012 a0002c0002t0001 a0002c0002t0012	a0002c0002t0001g0067 a0002c0002t0012g0004 a0002c0002t0001g0067 a0002c0002t0012g0004	2	168	0.0119	-22	c.137 others(41): Show c.1374-2566_1374-2545delTTTTTTTTTTTTTTTTTTTTTT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAE_chr17_3709628_3806188	3795826	CCTGTGTG others(15): Show CCTGTGTGTGCATGTGTGCATCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp2 HG03195.hp2 others(3): Show HG02055.hp1 HG03041.hp2 HG03195.hp2 HG03486.hp1 NA18522.hp1 NA19030.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0008 a0026	a0001c0001 a0004c0004 a0004c0052 others(3): Show a0001c0001 a0004c0004 a0004c0052 a0006c0024 a0008c0009 a0026c0053	a0001c0001t0001 a0004c0004t0001 a0004c0052t0001 others(3): Show a0001c0001t0001 a0004c0004t0001 a0004c0052t0001 a0006c0024t0001 a0008c0009t0001 a0026c0053t0001	a0001c0001t0001g0025 a0004c0004t0001g0015 a0004c0052t0001g0053 others(3): Show a0001c0001t0001g0025 a0004c0004t0001g0015 a0004c0052t0001g0053 a0006c0024t0001g0282 a0008c0009t0001g0024 a0026c0053t0001g0036	6	302	0.0199	-22	c.34+ others(37): Show c.34+5263_34+5284delAGATGCACACATGCACACACAG	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3797143	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0071 a0006c0006t0001g0071	1	302	0.0033	-22	c.34+ others(37): Show c.34+3946_34+3967delAAAAAAAATATATATATATATA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAM_chr16_31254975_31337877	31256985	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	244	0.0041	-22	c.-30 others(33): Show c.-3079_-3058delATATATATATATATATATATAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		2989		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31272451	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02683.hp1 HG04115.hp2 HG00741.hp1 HG02683.hp1 HG04115.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0003 a0004c0006t0003 a0002c0003t0003 a0004c0006t0003	a0002c0003t0003g0080 a0002c0003t0003g0116 a0004c0006t0003g0004 a0002c0003t0003g0080 a0002c0003t0003g0116 a0004c0006t0003g0004	3	244	0.0123	-22	c.704 others(37): Show c.704+461_704+482delATATATATATATTTTTTTTTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAV_chr2_186585056_186685901	186648981	TACATTTG others(15): Show TACATTTGTGTGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(132): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18967.hp1 NA18979.hp2 NA18980.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19070.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0005 a0001c0008 others(3): Show a0001c0001 a0001c0005 a0001c0008 a0004c0009 a0005c0010 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0005t0002 a0001c0008t0020 a0004c0009t0003 a0005c0010t0003 a0006c0007t0003	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0086 others(127): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0298 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0093 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0270 a0001c0001t0002g0283 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0034 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0214 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0265 a0001c0001t0003g0284 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0300 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0177 a0001c0001t0006g0149 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0011g0051 a0001c0001t0011g0072 a0001c0001t0013g0049 a0001c0001t0013g0056 a0001c0001t0014g0158 a0001c0001t0015g0271 a0001c0001t0017g0092 a0001c0001t0021g0230 a0001c0001t0024g0109 a0001c0005t0002g0030 a0001c0005t0002g0060 a0001c0005t0002g0061 a0001c0008t0020g0094 a0004c0009t0003g0297 a0005c0010t0003g0064 a0006c0007t0003g0249	135	308	0.4383	-22	c.135 others(39): Show c.1352-811_1352-790delTTTGTGTGTATATATATACACA	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB5_chr3_124756948_124892365	124807941	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	352	0.0028	-22	c.126 others(41): Show c.1263+1059_1263+1080delTTTTTTTTTTTTTTTTTTTTTT	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	9/14			chr3	TogoVar
ITIH1_chr3_52772599_52797062	52781201	TTTTTTTT others(15): Show TTTTTTTTTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp2 HG02976.hp1 others(1): Show HG00733.hp1 HG01361.hp2 HG02976.hp1 HG02976.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0013 a0004c0009 a0002c0002 a0002c0013 a0004c0009	a0002c0002t0001 a0002c0013t0001 a0004c0009t0001 a0002c0002t0001 a0002c0013t0001 a0004c0009t0001	a0002c0002t0001g0085 a0002c0013t0001g0039 a0004c0009t0001g0084 a0002c0002t0001g0085 a0002c0013t0001g0039 a0004c0009t0001g0084	4	406	0.0099	-22	c.688 others(37): Show c.688-736_688-715delTTTTTTTCTTCTTCTTCTTCTT	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH1_chr3_52772599_52797062	52781204	TTTTTTTC others(15): Show TTTTTTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02280.hp2 HG03225.hp1 others(2): Show HG01361.hp1 HG02280.hp2 HG03225.hp1 NA18957.hp2 NA19043.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0010 a0002c0002 a0003c0003 a0003c0010	a0002c0002t0001 a0003c0003t0001 a0003c0010t0001 a0002c0002t0001 a0003c0003t0001 a0003c0010t0001	a0002c0002t0001g0107 a0002c0002t0001g0108 a0003c0003t0001g0067 others(1): Show a0002c0002t0001g0107 a0002c0002t0001g0108 a0003c0003t0001g0067 a0003c0010t0001g0128	5	406	0.0123	-22	c.688 others(37): Show c.688-733_688-712delTTTTCTTCTTCTTCTTCTTCTT	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH2_chr10_7698316_7754520	7748225	TATATAAA others(15): Show TATATAAATAAATATATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	380	0.0026	-22	c.269 others(39): Show c.2694-956_2694-935delAATAAATATATGTATACATATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH3_chr3_52789796_52813797	52803306	ATTTTATT others(15): Show ATTTTATTTTATTATTATTATTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp1 HG02486.hp2 others(24): Show HG01243.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0003 a0008 a0015 a0003 a0008 a0015	a0003c0005 a0003c0009 a0003c0013 others(3): Show a0003c0005 a0003c0009 a0003c0013 a0003c0038 a0008c0012 a0015c0037	a0003c0005t0001 a0003c0009t0001 a0003c0013t0001 others(3): Show a0003c0005t0001 a0003c0009t0001 a0003c0013t0001 a0003c0038t0001 a0008c0012t0001 a0015c0037t0001	a0003c0005t0001g0007 a0003c0005t0001g0039 a0003c0009t0001g0013 others(4): Show a0003c0005t0001g0007 a0003c0005t0001g0039 a0003c0009t0001g0013 a0003c0013t0001g0014 a0003c0038t0001g0040 a0008c0012t0001g0016 a0015c0037t0001g0007	27	414	0.0652	-22	c.170 others(39): Show c.1709+505_1710-523delATTTTATTATTATTATTTTTTT	ITIH3	ENSG00000162267.14	transcript	ENST00000449956.3	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH5_chr10_7554270_7671966	7644865	TATATATC others(15): Show TATATATCACATATATATATCAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02886.hp1 others(2): Show HG01109.hp2 HG02145.hp1 HG02886.hp1 HG03225.hp2 HG03516.hp1	a0000 a0002 a0003 others(2): Show a0000 a0002 a0003 a0004 a0024	a0000c0057 a0002c0004 a0003c0055 others(2): Show a0000c0057 a0002c0004 a0003c0055 a0004c0008 a0024c0053	a0000c0057t0035 a0002c0004t0003 a0003c0055t0041 others(2): Show a0000c0057t0035 a0002c0004t0003 a0003c0055t0041 a0004c0008t0054 a0024c0053t0012	a0000c0057t0035g0191 a0002c0004t0003g0007 a0003c0055t0041g0005 others(2): Show a0000c0057t0035g0191 a0002c0004t0003g0007 a0003c0055t0041g0005 a0004c0008t0054g0004 a0024c0053t0012g0006	5	342	0.0146	-22	c.136 others(39): Show c.136-2797_136-2776delGTGATATATATATGTGATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 9631 hits)