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 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
INSR_chr19_7107265_7299414	7124563	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0236 a0001c0003t0005g0236	1	300	0.0033	-33	c.325 others(50): Show c.3258+687_3258+719delATATATATTTTTTTTTTTTTTTTTTTTT TTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124567	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19011.hp2 HG02074.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0060 a0001c0004t0068 a0001c0003t0060 a0001c0004t0068	a0001c0003t0060g0029 a0001c0004t0068g0073 a0001c0003t0060g0029 a0001c0004t0068g0073	2	300	0.0067	-33	c.325 others(50): Show c.3258+683_3258+715delATATATATATATTTTTTTTTTTTTTTTT TTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7250437	AAAAGAAA others(26): Show AAAAGAAAGAAGAAAGAAAAGGAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(62): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG02109.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02630.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp2 NA18944.hp2 NA18966.hp1 NA18968.hp2 NA18985.hp1 NA18993.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0021 a0001c0022 a0001c0026 a0001c0028 a0001c0041 a0001c0047 a0001c0053 a0002c0020 a0005c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0029 a0001c0001t0038 a0001c0001t0046 a0001c0001t0047 a0001c0001t0070 a0001c0001t0081 a0001c0001t0091 a0001c0001t0100 a0001c0001t0113 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0037 a0001c0002t0042 a0001c0002t0108 a0001c0002t0142 a0001c0003t0003 a0001c0003t0006 a0001c0003t0012 a0001c0003t0018 a0001c0003t0063 a0001c0003t0066 a0001c0003t0069 a0001c0003t0132 a0001c0003t0144 a0001c0004t0018 a0001c0004t0035 a0001c0004t0128 a0001c0004t0145 a0001c0005t0002 a0001c0005t0104 a0001c0006t0016 a0001c0006t0051 a0001c0007t0004 a0001c0008t0012 a0001c0008t0138 a0001c0009t0096 a0001c0010t0030 a0001c0011t0001 a0001c0014t0136 a0001c0021t0033 a0001c0022t0003 a0001c0026t0006 a0001c0028t0082 a0001c0028t0164 a0001c0041t0007 a0001c0047t0158 a0001c0053t0157 a0002c0020t0001 a0005c0039t0005	a0001c0001t0001g0161 a0001c0001t0002g0008 a0001c0001t0002g0016 others(62): Show a0001c0001t0001g0161 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0007g0155 a0001c0001t0007g0229 a0001c0001t0007g0264 a0001c0001t0010g0018 a0001c0001t0015g0124 a0001c0001t0029g0256 a0001c0001t0038g0262 a0001c0001t0046g0070 a0001c0001t0047g0058 a0001c0001t0070g0054 a0001c0001t0081g0165 a0001c0001t0091g0143 a0001c0001t0100g0126 a0001c0001t0113g0225 a0001c0002t0001g0135 a0001c0002t0001g0172 a0001c0002t0001g0238 a0001c0002t0002g0005 a0001c0002t0005g0231 a0001c0002t0037g0176 a0001c0002t0042g0022 a0001c0002t0108g0123 a0001c0002t0142g0174 a0001c0003t0003g0222 a0001c0003t0006g0037 a0001c0003t0012g0009 a0001c0003t0018g0137 a0001c0003t0063g0065 a0001c0003t0066g0050 a0001c0003t0069g0017 a0001c0003t0132g0207 a0001c0003t0144g0259 a0001c0004t0018g0164 a0001c0004t0035g0151 a0001c0004t0128g0179 a0001c0004t0145g0128 a0001c0005t0002g0066 a0001c0005t0104g0153 a0001c0006t0016g0104 a0001c0006t0051g0031 a0001c0007t0004g0205 a0001c0008t0012g0078 a0001c0008t0138g0113 a0001c0009t0096g0110 a0001c0010t0030g0263 a0001c0011t0001g0216 a0001c0011t0001g0217 a0001c0014t0136g0142 a0001c0021t0033g0121 a0001c0022t0003g0148 a0001c0026t0006g0051 a0001c0026t0006g0055 a0001c0028t0082g0115 a0001c0028t0164g0294 a0001c0041t0007g0266 a0001c0047t0158g0288 a0001c0053t0157g0287 a0002c0020t0001g0212 a0005c0039t0005g0270	65	300	0.2167	-33	c.652 others(52): Show c.652+16875_652+16907delCTTTCTTTTCTTCCTTTTCTTTCTTC TTTCTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7292543	ACTCTAGC others(26): Show ACTCTAGCACCTGATTTTACATGCACCCGTTTCC	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0244 a0001c0001t0031g0244	1	300	0.0033	-33	c.100 others(50): Show c.100+1216_100+1248delGGAAACGGGTGCATGTAAAATCAGGTGC TAGAG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	1/21			chr19	TogoVar
INTS4_chr11_77873720_77999668	77956710	AAATAATA others(26): Show AAATAATAATAATAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(72): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG01070.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 NA18947.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18985.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19062.hp2 NA19074.hp1 NA19085.hp1 NA19088.hp1 NA20129.hp1 NA20905.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0004c0010 a0006c0009 a0001c0002 a0004c0010 a0006c0009	a0001c0002t0001 a0004c0010t0001 a0006c0009t0001 a0001c0002t0001 a0004c0010t0001 a0006c0009t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0091 others(72): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0256 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0291 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0004c0010t0001g0109 a0006c0009t0001g0250	75	362	0.2072	-33	c.798 others(48): Show c.798-681_798-649delATTATTATTATTATTATTATTATTATTATT ATT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	7/22			chr11	TogoVar
IQCA1_chr2_236319151_236512476	236481899	GAATTCTA others(26): Show GAATTCTATGTATAATTCTACATATTATATGTAT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG02896.hp2 others(3): Show HG02723.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0005t0002 a0001c0001t0001 a0001c0001t0005 a0001c0005t0002	a0001c0001t0001g0124 a0001c0001t0005g0172 a0001c0005t0002g0041 others(3): Show a0001c0001t0001g0124 a0001c0001t0005g0172 a0001c0005t0002g0041 a0001c0005t0002g0059 a0001c0005t0002g0060 a0001c0005t0002g0138	6	208	0.0289	-33	c.720 others(50): Show c.720+4897_720+4929delATACATATAATATGTAGAATTATACATA GAATT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	5/18			chr2	TogoVar
IQCG_chr3_197884077_197964991	197892515	GATTCCTT others(26): Show GATTCCTTCCACTCCCTCCTCAGTGAGTGCCCTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02965.hp1 others(6): Show HG02109.hp1 HG02258.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG06807.hp1 NA18963.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0002c0002t0001g0044 a0002c0002t0001g0088	9	280	0.0321	-33	c.109 others(49): Show c.1095+80_1095+112delTAGGGCACTCACTGAGGAGGGAGTGGAAG GAAT	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	10/11			chr3	TogoVar
IQCG_chr3_197884077_197964991	197892563	CTCCTCAG others(26): Show CTCCTCAGTGAGCACCCTAATTCCTTTCACTCTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18941.hp1 NA18951.hp2 others(3): Show HG00544.hp1 NA18941.hp1 NA18951.hp2 NA18968.hp2 NA19007.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0001 a0002c0002t0009	a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0153 others(3): Show a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0269 a0002c0002t0009g0277	6	280	0.0214	-33	c.109 others(48): Show c.1095+32_1095+64delCAGAGTGAAAGGAATTAGGGTGCTCACTGA GGA	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	10/11			chr3	TogoVar
IQGAP2_chr5_76398285_76713132	76496702	CTCTTTCT others(26): Show CTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02486.hp1 HG03453.hp1 others(3): Show HG00735.hp1 HG02486.hp1 HG03453.hp1 NA19054.hp1 NA19054.hp2 NA19068.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0003 a0001c0018 a0005c0012 others(2): Show a0001c0003 a0001c0018 a0005c0012 a0005c0017 a0006c0008	a0001c0003t0001 a0001c0018t0001 a0005c0012t0002 others(3): Show a0001c0003t0001 a0001c0018t0001 a0005c0012t0002 a0005c0012t0005 a0005c0017t0001 a0006c0008t0002	a0001c0003t0001g0210 a0001c0018t0001g0125 a0005c0012t0002g0140 others(3): Show a0001c0003t0001g0210 a0001c0018t0001g0125 a0005c0012t0002g0140 a0005c0012t0005g0063 a0005c0017t0001g0134 a0006c0008t0002g0103	6	222	0.0270	-33	c.146 others(52): Show c.146+35059_146+35091delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRGQ_chr19_43579367_43601134	43598120	AAGCAGCA others(26): Show AAGCAGCAGCAGACATTCACATTAGCCAGGATAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	426	0.0024	-33	c.-21 others(44): Show c.-2174_-2142delCTATCCTGGCTAATGTGAATGTCTGCTGCTGCT	IRGQ	ENSG00000167378.10	transcript	ENST00000422989.6	protein_coding		1987		chr19	TogoVar
IRS1_chr2_226726312_226804820	226766133	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0032 a0001c0003t0013g0032	1	278	0.0036	-33	c.21 others(52): Show c.21+28823_*21+28855delAAATATATATATATATATATATATAT ATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
ISLR_chr15_74168710_74181871	74177551	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTACAGCAACCTGAGCGGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02970.hp2 HG01109.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	434	0.0046	-33	c.14 others(44): Show c.1407_*1439delGTGTGTGTGTGTGTACAGCAACCTGAGCGGTGC	ISLR	ENSG00000129009.13	transcript	ENST00000249842.8	protein_coding		681		chr15	TogoVar
ITFG2_chr12_2807668_2830076	2823033	ATTCACCA others(26): Show ATTCACCAGTGAGTTCTTCAGCTCTTTTGTTTGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	402	0.0025	-33	c.106 others(50): Show c.1066+123_1066+155delTTCACCAGTGAGTTCTTCAGCTCTTTTG TTTGG	ITFG2	ENSG00000111203.13	transcript	ENST00000228799.7	protein_coding	10/11			chr12	TogoVar
ITGA11_chr15_68291532_68437163	68397510	ATATATTT others(26): Show ATATATTTAAAATATTATAAAATATTTAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01167.hp2 HG02056.hp1 others(16): Show HG00597.hp2 HG01167.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02451.hp2 HG02559.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03453.hp2 HG03471.hp2 HG04184.hp1 NA18941.hp2 NA18953.hp2 NA18959.hp1 NA18964.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0078 a0001c0081 a0002c0055 a0003c0004 a0003c0009 a0004c0010 a0004c0076 a0004c0077 a0005c0015 a0006c0017 a0007c0007 a0008c0082	a0001c0001t0003 a0001c0002t0076 a0001c0002t0115 others(16): Show a0001c0001t0003 a0001c0002t0076 a0001c0002t0115 a0001c0005t0083 a0001c0005t0109 a0001c0078t0060 a0001c0081t0012 a0002c0055t0007 a0003c0004t0002 a0003c0009t0002 a0003c0009t0014 a0004c0010t0002 a0004c0010t0007 a0004c0076t0015 a0004c0077t0099 a0005c0015t0093 a0006c0017t0012 a0007c0007t0053 a0008c0082t0042	a0001c0001t0003g0066 a0001c0002t0076g0076 a0001c0002t0115g0004 others(16): Show a0001c0001t0003g0066 a0001c0002t0076g0076 a0001c0002t0115g0004 a0001c0005t0083g0156 a0001c0005t0109g0127 a0001c0078t0060g0077 a0001c0081t0012g0238 a0002c0055t0007g0200 a0003c0004t0002g0209 a0003c0009t0002g0078 a0003c0009t0014g0218 a0004c0010t0002g0091 a0004c0010t0007g0109 a0004c0076t0015g0115 a0004c0077t0099g0223 a0005c0015t0093g0205 a0006c0017t0012g0120 a0007c0007t0053g0110 a0008c0082t0042g0123	19	242	0.0785	-33	c.164 others(50): Show c.164+5375_164+5407delATATTTTAAATATTTTATAATATTTTAA ATATA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA8_chr10_15508954_15724922	15644461	TATATATA others(26): Show TATATATATATATATATATATATATATATATAGA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	220	0.0046	-33	c.120 others(50): Show c.1208-273_1208-241delTCTATATATATATATATATATATATATA TATAT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	12/29			chr10	TogoVar
ITGAM_chr16_31254975_31337877	31272453	ATATATAT others(26): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	244	0.0041	-33	c.704 others(48): Show c.704+463_704+495delATATATATATTTTTTTTTTTTTTTTTTTTT TTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334716	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0074 a0002c0003t0003g0074	1	244	0.0041	-33	c.30 others(44): Show c.3010_*3042delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1840		chr16	TogoVar
ITGB3BP_chr1_63435770_63528225	63483863	GCCTAGGA others(26): Show GCCTAGGAACAAAAGGCTATACCATATAGCATAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	374	0.0027	-33	c.185 others(50): Show c.185-5063_185-5031delTTATGCTATATGGTATAGCCTTTTGTTC CTAGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	3/8			chr1	TogoVar
ITGB5_chr3_124756948_124892365	124760111	AGGAGCCC others(26): Show AGGAGCCCCAACGCTGAGTCGCAGCCAGGACCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02976.hp1 NA19043.hp2 others(1): Show HG02922.hp1 HG02976.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0011 a0001c0013 a0001c0022 a0001c0011 a0001c0013 a0001c0022	a0001c0011t0002 a0001c0013t0002 a0001c0022t0012 a0001c0011t0002 a0001c0013t0002 a0001c0022t0012	a0001c0011t0002g0066 a0001c0011t0002g0068 a0001c0013t0002g0237 others(1): Show a0001c0011t0002g0066 a0001c0011t0002g0068 a0001c0013t0002g0237 a0001c0022t0012g0002	4	352	0.0114	-33	c.34 others(44): Show c.3479_*3511delGAGGTCCTGGCTGCGACTCAGCGTTGGGGCTCC	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding		1836		chr3	TogoVar
ITIH2_chr10_7698316_7754520	7737645	ATTCTATA others(26): Show ATTCTATATTATATTCTATATTATATTCTATATT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02135.hp2 HG00438.hp1 HG02135.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0272 a0001c0011t0001g0273 a0001c0011t0001g0272 a0001c0011t0001g0273	2	380	0.0053	-33	c.195 others(50): Show c.1958-955_1958-923delTATATTCTATATTTTCTATATTATATTC TATAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566820	GGAAGAGG others(26): Show GGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp2 HG02630.hp2 NA19240.hp2	a0020 a0028 a0020 a0028	a0020c0052 a0028c0068 a0020c0052 a0028c0068	a0020c0052t0062 a0028c0068t0005 a0020c0052t0062 a0028c0068t0005	a0020c0052t0062g0014 a0028c0068t0005g0053 a0020c0052t0062g0014 a0028c0068t0005g0053	2	342	0.0059	-33	c.215 others(50): Show c.2150-446_2150-414delTTCTTCTTCCTCTTCCTCTTCCTCTTCC TCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566826	GGAAGAGG others(26): Show GGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0002 a0002c0003t0001g0003	2	342	0.0059	-33	c.215 others(50): Show c.2150-452_2150-420delTTCTTCTTCTTCTTCCTCTTCCTCTTCC TCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566832	GGAAGAGG others(26): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02602.hp1 HG02622.hp1 others(2): Show HG00642.hp1 HG02602.hp1 HG02622.hp1 HG04204.hp1 NA19091.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0002c0004 others(2): Show a0001c0001 a0002c0003 a0002c0004 a0002c0009 a0005c0010	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0005c0010t0001	a0001c0001t0001g0040 a0002c0003t0001g0327 a0002c0004t0001g0055 others(2): Show a0001c0001t0001g0040 a0002c0003t0001g0327 a0002c0004t0001g0055 a0002c0009t0001g0098 a0005c0010t0001g0008	5	342	0.0146	-33	c.215 others(50): Show c.2150-458_2150-426delTTCTTCTTCTTCTTCTTCTTCCTCTTCC TCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566838	GGAAGAGG others(26): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03669.hp1 HG04184.hp1 HG02055.hp2 HG03669.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0001c0001t0001 a0001c0006t0001 a0002c0003t0001	a0001c0001t0001g0237 a0001c0006t0001g0107 a0002c0003t0001g0141 a0001c0001t0001g0237 a0001c0006t0001g0107 a0002c0003t0001g0141	3	342	0.0088	-33	c.215 others(50): Show c.2150-464_2150-432delTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7593376	ACTGCAGC others(26): Show ACTGCAGCCACCCAGCCCCACTCACCCCTGCAGC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0021 a0002c0003t0012g0021	1	342	0.0029	-33	c.940 others(50): Show c.940-7340_940-7308delGCTGCAGGGGTGAGTGGGGCTGGGTGGC TGCAG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7593409	CCTGCAGC others(26): Show CCTGCAGCCACCCAGCCCCACTCACCCCTGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp2 HG01169.hp1 others(7): Show HG00733.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG02074.hp1 HG02135.hp1 HG04199.hp1 NA18949.hp2 NA18977.hp2 NA19007.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0018 others(2): Show a0001c0001 a0002c0003 a0002c0018 a0003c0002 a0003c0005	a0001c0001t0001 a0002c0003t0001 a0002c0018t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0002c0018t0001 a0003c0002t0001 a0003c0002t0009 a0003c0005t0001	a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0252 others(7): Show a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0252 a0002c0003t0001g0143 a0002c0003t0001g0339 a0002c0018t0001g0303 a0002c0018t0001g0305 a0003c0002t0001g0235 a0003c0002t0009g0212 a0003c0005t0001g0154	10	342	0.0292	-33	c.940 others(50): Show c.940-7373_940-7341delTCTGCAGGGGTGAGTGGGGCTGGGTGGC TGCAG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7593442	ACTGCAGC others(26): Show ACTGCAGCCACCCAGCCCCACTCACCCCTGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03471.hp2 HG06807.hp1 HG02040.hp1 HG03471.hp2 HG06807.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0015 a0003c0002 a0002c0003 a0002c0015 a0003c0002	a0002c0003t0001 a0002c0015t0001 a0003c0002t0001 a0002c0003t0001 a0002c0015t0001 a0003c0002t0001	a0002c0003t0001g0323 a0002c0015t0001g0283 a0003c0002t0001g0213 a0002c0003t0001g0323 a0002c0015t0001g0283 a0003c0002t0001g0213	3	342	0.0088	-33	c.940 others(50): Show c.940-7406_940-7374delGCTGCAGGGGTGAGTGGGGCTGGGTGGC TGCAG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7593475	CCTGCAGC others(26): Show CCTGCAGCCACCCAGCCCCACTCACCCCTGTAGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00609.hp1 others(33): Show HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG01884.hp1 HG01975.hp2 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02647.hp1 HG02818.hp1 HG03453.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18943.hp1 NA18948.hp1 NA18951.hp1 NA18959.hp1 NA18961.hp1 NA18965.hp1 NA18980.hp1 NA18991.hp2 NA19002.hp2 NA19056.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA20752.hp2	a0000 a0001 a0002 others(5): Show a0000 a0001 a0002 a0003 a0004 a0005 a0009 a0033	a0000c0034 a0000c0041 a0000c0079 others(11): Show a0000c0034 a0000c0041 a0000c0079 a0001c0001 a0001c0006 a0002c0003 a0002c0004 a0003c0002 a0003c0005 a0004c0007 a0004c0008 a0005c0010 a0009c0027 a0033c0047	a0000c0034t0004 a0000c0041t0013 a0000c0079t0004 others(15): Show a0000c0034t0004 a0000c0041t0013 a0000c0079t0004 a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0003c0002t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0009 a0004c0007t0056 a0004c0008t0005 a0005c0010t0001 a0005c0010t0019 a0009c0027t0001 a0033c0047t0001	a0000c0034t0004g0313 a0000c0041t0013g0150 a0000c0079t0004g0282 others(33): Show a0000c0034t0004g0313 a0000c0041t0013g0150 a0000c0079t0004g0282 a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0167 a0001c0001t0001g0222 a0001c0001t0001g0237 a0001c0001t0001g0274 a0001c0006t0001g0057 a0001c0006t0001g0106 a0001c0006t0001g0107 a0001c0006t0001g0136 a0001c0006t0001g0332 a0002c0003t0001g0197 a0002c0003t0001g0298 a0002c0003t0001g0301 a0002c0003t0003g0070 a0002c0004t0001g0173 a0003c0002t0001g0044 a0003c0002t0001g0071 a0003c0002t0001g0204 a0003c0002t0001g0224 a0003c0002t0001g0232 a0003c0005t0001g0118 a0003c0005t0001g0134 a0003c0005t0001g0281 a0003c0005t0001g0311 a0003c0005t0005g0128 a0003c0005t0009g0309 a0004c0007t0056g0086 a0004c0008t0005g0269 a0005c0010t0001g0247 a0005c0010t0019g0267 a0009c0027t0001g0209 a0033c0047t0001g0341	36	342	0.1053	-33	c.940 others(50): Show c.940-7439_940-7407delTCTACAGGGGTGAGTGGGGCTGGGTGGC TGCAG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7593664	CCCCTGCA others(26): Show CCCCTGCAGCCTGCAGCCACCCAGCCCCACTCAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02486.hp1 others(6): Show HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02723.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG04184.hp1 NA18906.hp2	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0004 a0013	a0000c0011 a0001c0006 a0002c0003 others(4): Show a0000c0011 a0001c0006 a0002c0003 a0002c0004 a0004c0008 a0004c0078 a0013c0019	a0000c0011t0031 a0001c0006t0001 a0002c0003t0008 others(5): Show a0000c0011t0031 a0001c0006t0001 a0002c0003t0008 a0002c0003t0012 a0002c0004t0001 a0004c0008t0006 a0004c0078t0006 a0013c0019t0021	a0000c0011t0031g0260 a0001c0006t0001g0107 a0002c0003t0008g0148 others(6): Show a0000c0011t0031g0260 a0001c0006t0001g0107 a0002c0003t0008g0148 a0002c0003t0012g0021 a0002c0003t0012g0322 a0002c0004t0001g0192 a0004c0008t0006g0187 a0004c0078t0006g0011 a0013c0019t0021g0111	9	342	0.0263	-33	c.940 others(50): Show c.940-7628_940-7596delATGAGTGGGGCTGGGTGGCTGCAGGCTG CAGGG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644667	ATATATCA others(26): Show ATATATCACATATATATCATATATATCACATATC	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	342	0.0029	-33	c.136 others(50): Show c.136-2610_136-2578delGATATGTGATATATATGATATATATGTG ATATA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13			chr10	TogoVar
ITK_chr5_157175840_157260185	157243934	AATCAAAC others(26): Show AATCAAACTCTTCACAGTGGTCTCCAAGGCCCAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	348	0.0029	-33	c.123 others(50): Show c.1232+141_1232+173delATCAAACTCTTCACAGTGGTCTCCAAGG CCCAC	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	12/16			chr5	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0304 a0001c0005t0016g0304	1	364	0.0028	-33	c.-25 others(52): Show c.-25-16863_-25-16831delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6037101	GCAGAGGC others(26): Show GCAGAGGCTAACCGGTATCCCTCCATCACTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp1 HG02300.hp2 HG00323.hp1 HG01192.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0156 a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0156	3	233	0.0129	-33	c.217 others(51): Show c.2176-1027_2176-995delACTCAGTGATGGAGGGATACCGGTTAG CCTCTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132147650	GCCTCCCT others(26): Show GCCTCCCTTCCACATCCCTGTCCAGGGGCCACCC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0016 a0002c0005t0001g0016	1	158	0.0063	-33	c.175 others(50): Show c.1750-301_1750-269delCCTCCCTTCCACATCCCTGTCCAGGGGC CACCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	13/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132149838	CCACCCTG others(26): Show CCACCCTGCCCTACCTCACCCCTGCCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 HG02074.hp1 others(2): Show HG00423.hp2 HG02027.hp1 HG02074.hp1 HG04184.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0146 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0021g0119	5	158	0.0317	-33	c.194 others(50): Show c.1948-142_1948-110delACCCTGCCCTACCTCACCCCTGCCCCTC CCCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH2_chr20_44101590_44192188	44134676	TTATAAAT others(26): Show TTATAAATATTATAAATATATATACATTAATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(66): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01167.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02273.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp1 HG06807.hp1 NA18943.hp2 NA18944.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18971.hp2 NA18975.hp1 NA18982.hp1 NA18993.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp2 NA19066.hp1 NA19084.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0024 a0002c0002 a0003c0008 a0003c0019 a0005c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0061 a0001c0001t0069 a0001c0001t0093 a0001c0001t0098 a0001c0003t0001 a0001c0003t0002 a0001c0003t0026 a0001c0003t0050 a0001c0003t0083 a0001c0004t0019 a0001c0004t0035 a0001c0004t0044 a0001c0004t0113 a0001c0007t0028 a0001c0007t0076 a0001c0007t0103 a0001c0007t0108 a0001c0024t0007 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0003c0008t0023 a0003c0008t0034 a0003c0008t0112 a0003c0019t0068 a0005c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0241 a0001c0001t0001g0249 others(64): Show a0001c0001t0001g0002 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0060 a0001c0001t0007g0307 a0001c0001t0007g0325 a0001c0001t0009g0119 a0001c0001t0030g0247 a0001c0001t0036g0120 a0001c0001t0037g0276 a0001c0001t0061g0104 a0001c0001t0069g0142 a0001c0001t0093g0277 a0001c0001t0098g0266 a0001c0003t0001g0208 a0001c0003t0002g0011 a0001c0003t0002g0022 a0001c0003t0026g0191 a0001c0003t0026g0192 a0001c0003t0050g0006 a0001c0003t0083g0190 a0001c0004t0019g0176 a0001c0004t0019g0177 a0001c0004t0019g0178 a0001c0004t0019g0179 a0001c0004t0035g0034 a0001c0004t0044g0092 a0001c0004t0113g0336 a0001c0007t0028g0238 a0001c0007t0028g0285 a0001c0007t0028g0287 a0001c0007t0076g0152 a0001c0007t0103g0292 a0001c0007t0108g0304 a0001c0024t0007g0308 a0002c0002t0003g0001 a0002c0002t0003g0033 a0002c0002t0003g0035 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0082 a0002c0002t0004g0264 a0002c0002t0004g0271 a0002c0002t0006g0174 a0003c0008t0023g0036 a0003c0008t0023g0058 a0003c0008t0034g0332 a0003c0008t0034g0334 a0003c0008t0034g0335 a0003c0008t0112g0333 a0003c0019t0068g0137 a0005c0023t0001g0283	69	338	0.2041	-33	c.117 others(54): Show c.1170-16086_1170-16054delTATATTAATGTATATATATTTATA ATATTTATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87681153	AAGGTCAG others(26): Show AAGGTCAGGTGCACGCGGTGATGACAGTTCCGGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00673.hp2 others(67): Show HG00597.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp1 HG01074.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18982.hp1 NA18986.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0022 a0001c0031 a0001c0036 a0001c0038 a0001c0039 a0001c0047 a0001c0050 a0002c0020 a0004c0028 a0012c0049 a0013c0025	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(32): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0025 a0001c0003t0030 a0001c0003t0033 a0001c0005t0001 a0001c0005t0034 a0001c0007t0001 a0001c0007t0031 a0001c0008t0005 a0001c0010t0002 a0001c0011t0002 a0001c0012t0002 a0001c0013t0005 a0001c0013t0017 a0001c0014t0001 a0001c0014t0003 a0001c0016t0001 a0001c0022t0001 a0001c0031t0001 a0001c0036t0005 a0001c0038t0001 a0001c0039t0001 a0001c0047t0001 a0001c0050t0001 a0002c0020t0001 a0004c0028t0002 a0012c0049t0001 a0013c0025t0001	a0001c0001t0001g0250 a0001c0002t0001g0075 a0001c0002t0001g0078 others(67): Show a0001c0001t0001g0250 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0353 a0001c0002t0013g0079 a0001c0002t0013g0080 a0001c0003t0001g0022 a0001c0003t0001g0031 a0001c0003t0001g0083 a0001c0003t0001g0091 a0001c0003t0001g0131 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0141 a0001c0003t0001g0173 a0001c0003t0001g0186 a0001c0003t0001g0248 a0001c0003t0001g0260 a0001c0003t0001g0332 a0001c0003t0001g0341 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0004g0342 a0001c0003t0005g0019 a0001c0003t0005g0029 a0001c0003t0005g0321 a0001c0003t0006g0158 a0001c0003t0025g0178 a0001c0003t0030g0217 a0001c0003t0033g0357 a0001c0005t0001g0088 a0001c0005t0034g0100 a0001c0007t0001g0140 a0001c0007t0001g0176 a0001c0007t0001g0212 a0001c0007t0001g0214 a0001c0007t0031g0345 a0001c0008t0005g0361 a0001c0010t0002g0049 a0001c0011t0002g0017 a0001c0011t0002g0094 a0001c0011t0002g0234 a0001c0011t0002g0328 a0001c0011t0002g0363 a0001c0012t0002g0310 a0001c0012t0002g0360 a0001c0013t0005g0149 a0001c0013t0005g0315 a0001c0013t0017g0378 a0001c0014t0001g0366 a0001c0014t0003g0264 a0001c0016t0001g0011 a0001c0016t0001g0238 a0001c0016t0001g0330 a0001c0022t0001g0329 a0001c0031t0001g0107 a0001c0036t0005g0151 a0001c0038t0001g0069 a0001c0039t0001g0327 a0001c0047t0001g0162 a0001c0050t0001g0242 a0002c0020t0001g0195 a0002c0020t0001g0216 a0004c0028t0002g0021 a0012c0049t0001g0340 a0013c0025t0001g0145	70	380	0.1842	-33	c.116 others(52): Show c.1161-2944_1161-2912delACGCGGTGATGACAGTTCCGGGAGGT CAGGTGC	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87681285	AAGGTCAG others(26): Show AAGGTCAGGTGCGCACGGTGATGACAGTTCCGGG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0202 a0001c0004t0001g0202	1	380	0.0026	-33	c.116 others(52): Show c.1161-2843_1161-2811delACGGTGATGACAGTTCCGGGAGGTCA GGTGCGC	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87681379	TCCGGGAG others(26): Show TCCGGGAGGTCAGGTGCGCGCGGTCGTGACAGTG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	380	0.0026	-33	c.116 others(52): Show c.1161-2739_1161-2707delCGTGACAGTGCCGGGAGGTCAGGTGC GCGCGGT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87681403	CGTGACAG others(26): Show CGTGACAGTGCCGGGAGGTCAGGTGCGCGCGGTG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02451.hp1 others(3): Show HG01257.hp1 HG01258.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 a0001c0003 a0001c0004 a0001c0008	a0001c0003t0005 a0001c0004t0001 a0001c0008t0005 a0001c0003t0005 a0001c0004t0001 a0001c0008t0005	a0001c0003t0005g0019 a0001c0003t0005g0029 a0001c0003t0005g0321 others(3): Show a0001c0003t0005g0019 a0001c0003t0005g0029 a0001c0003t0005g0321 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0008t0005g0361	6	380	0.0158	-33	c.116 others(52): Show c.1161-2640_1161-2608delGGTGACAGTGCCGGGAGGTCAGGTGC GCGCGGT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	284	0.0035	-33	c.175 others(52): Show c.1755+5730_1755+5762delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14			chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210171295	GGCCGCCG others(26): Show GGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0003 a0001c0001t0020g0003	1	284	0.0035	-33	c.-20 others(42): Show c.-209_-177delGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	1/15	16714		chr2	TogoVar
KAT2B_chr3_20035446_20159404	20106985	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG00423.hp1 HG02015.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0124 a0002c0003t0003g0248 a0002c0003t0003g0124 a0002c0003t0003g0248	2	374	0.0054	-33	c.852 others(50): Show c.852-4609_852-4577delATATATATATATATATATATATATATAT ATTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106987	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03098.hp2 NA18953.hp1 others(7): Show HG01952.hp2 HG03098.hp2 NA18953.hp1 NA18956.hp1 NA18979.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA19002.hp2 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0002c0003t0003 a0002c0003t0011 a0001c0005t0001 a0002c0003t0003 a0002c0003t0011	a0001c0005t0001g0018 a0002c0003t0003g0169 a0002c0003t0003g0245 others(7): Show a0001c0005t0001g0018 a0002c0003t0003g0169 a0002c0003t0003g0245 a0002c0003t0003g0247 a0002c0003t0003g0293 a0002c0003t0003g0298 a0002c0003t0003g0352 a0002c0003t0003g0353 a0002c0003t0003g0356 a0002c0003t0011g0287	10	374	0.0267	-33	c.852 others(50): Show c.852-4607_852-4575delATATATATATATATATATATATATATAT TTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106989	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02970.hp2 NA18969.hp2 others(3): Show HG00609.hp2 HG02970.hp2 NA18969.hp2 NA19001.hp1 NA19065.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0023 a0002c0003t0003g0030 a0002c0003t0003g0117 others(3): Show a0001c0001t0001g0023 a0002c0003t0003g0030 a0002c0003t0003g0117 a0002c0003t0003g0244 a0002c0003t0003g0249 a0002c0003t0003g0271	6	374	0.0160	-33	c.852 others(50): Show c.852-4605_852-4573delATATATATATATATATATATATATATTT TTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106991	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02615.hp2 HG03017.hp2 others(5): Show HG00408.hp1 HG02615.hp2 HG03017.hp2 NA18963.hp1 NA18983.hp1 NA19056.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0304 a0001c0002t0001g0013 a0001c0002t0001g0021 others(5): Show a0001c0001t0001g0304 a0001c0002t0001g0013 a0001c0002t0001g0021 a0002c0003t0002g0119 a0002c0003t0002g0122 a0002c0003t0003g0031 a0002c0003t0003g0121 a0002c0003t0003g0147	8	374	0.0214	-33	c.852 others(50): Show c.852-4603_852-4571delATATATATATATATATATATATATTTTT TTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106993	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02602.hp1 HG03098.hp1 others(2): Show HG01891.hp2 HG02602.hp1 HG03098.hp1 HG03139.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0002c0003t0003 a0001c0002t0001 a0001c0002t0002 a0002c0003t0003	a0001c0002t0001g0020 a0001c0002t0002g0062 a0002c0003t0003g0015 others(2): Show a0001c0002t0001g0020 a0001c0002t0002g0062 a0002c0003t0003g0015 a0002c0003t0003g0226 a0002c0003t0003g0314	5	374	0.0134	-33	c.852 others(50): Show c.852-4601_852-4569delATATATATATATATATATATATTTTTTT TTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAZN_chr1_14593685_15123043	14681629	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	146	0.0069	-33	c.226 others(52): Show c.226+82408_226+82440delATATATATATATATATATATATATAT ATTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918686	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02717.hp2 HG02257.hp2 HG02630.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0007 a0001c0001t0002g0137 a0001c0001t0027g0016 a0001c0001t0002g0007 a0001c0001t0002g0137 a0001c0001t0027g0016	3	146	0.0206	-33	c.227 others(52): Show c.227-41996_227-41964delAAAAAAAAAAAAAAAAAAAAATATAT ATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15050028	GGGTAGGG others(26): Show GGGTAGGGTAGGGTAGGGTAGGGTAGGGTAGGGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0008 a0002c0007t0001g0008	1	146	0.0069	-33	c.726 others(50): Show c.726+5870_726+5902delGGTAGGGTAGGGTAGGGTAGGGTAGGGT AGGGT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14			chr1	TogoVar

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Search Results (Total: 2438 hits)