Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
IQCM_chr4_149346709_149820843	149481701	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTGTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02074.hp2 HG02486.hp2 others(4): Show HG00438.hp1 HG02074.hp2 HG02486.hp2 HG02647.hp1 HG02896.hp1 NA19080.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0003 a0003c0005 others(1): Show a0001c0001 a0002c0003 a0003c0005 a0006c0009	a0001c0001t0001 a0002c0003t0001 a0003c0005t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0003c0005t0001 a0006c0009t0001	a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0001g0229 others(4): Show a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0001g0229 a0002c0003t0001g0009 a0003c0005t0001g0192 a0003c0005t0001g0247 a0006c0009t0001g0112	7	252	0.0278	21	c.122 others(42): Show c.1229-48145_1229-48144insACAAAAAACAAAAAAAAAAAA		IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13						chr4	TogoVar
IQCM_chr4_149346709_149820843	149481701	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19084.hp1 HG03516.hp1 NA19084.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0009 a0002c0003 a0006c0009	a0002c0003t0001 a0006c0009t0001 a0002c0003t0001 a0006c0009t0001	a0002c0003t0001g0189 a0006c0009t0001g0113 a0002c0003t0001g0189 a0006c0009t0001g0113	2	252	0.0079	21	c.122 others(42): Show c.1229-48145_1229-48144insAAAAAAAACAAAAAAAAAAAA		IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13						chr4	TogoVar
IQCM_chr4_149346709_149820843	149481704	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19030.hp2 HG02723.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0065 a0001c0001t0002g0010 a0001c0001t0002g0065	2	252	0.0079	21	c.122 others(42): Show c.1229-48148_1229-48147insCAAACAAACAAAAAAAAAAAA		IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13						chr4	TogoVar
IQCM_chr4_149346709_149820843	149481704	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0244 a0001c0002t0002g0244	1	252	0.0040	21	c.122 others(42): Show c.1229-48148_1229-48147insCAAACAAAAAAAAAAAAAAAA		IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13						chr4	TogoVar
IQCM_chr4_149346709_149820843	149486064	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	252	0.0040	21	c.122 others(42): Show c.1229-52508_1229-52507insGAGAGAGAGAGAGAGAGAGAG		IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13						chr4	TogoVar
IQGAP1_chr15_90383242_90507239	90496306	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0283 a0001c0013t0003g0283	1	360	0.0028	21	c.475 others(38): Show c.4752-917_4752-897dupTTTTTTTTTTTTTTTTTTTTT		IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	36/37					INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76610050	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02083.hp2 HG01934.hp2 HG02083.hp2	a0004 a0022 a0004 a0022	a0004c0007 a0022c0029 a0004c0007 a0022c0029	a0004c0007t0003 a0022c0029t0003 a0004c0007t0003 a0022c0029t0003	a0004c0007t0003g0180 a0022c0029t0003g0100 a0004c0007t0003g0180 a0022c0029t0003g0100	2	222	0.0090	21	c.135 others(38): Show c.1358-970_1358-969insCTCTCTCTCTCTCTCTCTCTC		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	12/35						chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03490.hp1 NA18522.hp1 HG02451.hp1 HG03490.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0004 a0001c0003t0001 a0002c0001t0001 a0001c0002t0004 a0001c0003t0001 a0002c0001t0001	a0001c0002t0004g0074 a0001c0003t0001g0192 a0002c0001t0001g0105 a0001c0002t0004g0074 a0001c0003t0001g0192 a0002c0001t0001g0105	3	222	0.0135	21	c.209 others(40): Show c.2094+3194_2094+3214dupTTTTTTTTTTTTTTTTTTTTT		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0108 a0001c0009t0003g0108	1	222	0.0045	21	c.436 others(40): Show c.4368-1357_4368-1356insCTCTCTCTCTCTCTCTCTCTC		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35						chr5	TogoVar
IQSEC2_chrX_53227876_53326350	53311121	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG02083.hp1 others(17): Show HG01106.hp1 HG01109.hp1 HG02083.hp1 HG02145.hp1 HG02165.hp2 HG02523.hp1 HG02970.hp1 HG03130.hp1 HG03471.hp1 HG03579.hp1 NA18961.hp1 NA18977.hp1 NA18986.hp1 NA18989.hp1 NA18993.hp2 NA19070.hp1 NA19076.hp1 NA19079.hp1 NA19084.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0006 others(1): Show a0001c0001 a0001c0004 a0002c0006 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0004t0001 a0001c0004t0004 a0002c0006t0001 a0004c0013t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0105 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0001g0188 a0001c0001t0002g0128 a0001c0001t0007g0126 a0001c0001t0008g0194 a0001c0004t0001g0002 a0001c0004t0001g0003 a0001c0004t0004g0001 a0002c0006t0001g0005 a0004c0013t0001g0213	20	213	0.0939	21	c.707 others(38): Show c.707+9295_707+9296insTTTTTTTTTTTTTTTTTTTTT		IQSEC2	ENSG00000124313.19	transcript	ENST00000642864.1	protein_coding	1/14						chrX	TogoVar
IRAG1_chr11_10568095_10698755	10680401	G G	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0062 a0002c0003t0004g0062	1	278	0.0036	21	c.67+ others(38): Show c.67+13134_67+13135insTCTTTCCTTCCTTCCTTCCTT		IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20						chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680404	G G	GGAAGGAA others(14): Show GGAAGGAAAGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp2 NA20129.hp2 HG02630.hp2 HG03041.hp2 NA20129.hp2	a0008 a0022 a0008 a0022	a0008c0017 a0008c0037 a0022c0042 a0008c0017 a0008c0037 a0022c0042	a0008c0017t0004 a0008c0037t0014 a0022c0042t0003 a0008c0017t0004 a0008c0037t0014 a0022c0042t0003	a0008c0017t0004g0229 a0008c0037t0014g0218 a0022c0042t0003g0228 a0008c0017t0004g0229 a0008c0037t0014g0218 a0022c0042t0003g0228	3	278	0.0108	21	c.67+ others(38): Show c.67+13131_67+13132insTTTCCTTTCTTTCTTTCCTTC		IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20						chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680404	G G	GGAAGGAA others(14): Show GGAAGGAAGGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG01256.hp2 others(24): Show HG00280.hp2 HG01243.hp1 HG01256.hp2 HG01433.hp2 HG01515.hp2 HG02129.hp1 HG02258.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp2 HG03834.hp2 NA18906.hp1 NA18906.hp2 NA18953.hp2 NA18962.hp2 NA18966.hp2 NA18973.hp2 NA18978.hp2 NA18992.hp1 NA18993.hp1 NA19065.hp2 NA19088.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0013 a0018 a0021	a0001c0001 a0001c0002 a0001c0008 others(6): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0006 a0004c0012 a0013c0015 a0018c0026 a0021c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0002t0002 a0001c0008t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0011 a0002c0003t0013 a0002c0003t0021 a0002c0006t0002 a0002c0006t0004 a0004c0012t0022 a0013c0015t0005 a0018c0026t0012 a0021c0024t0001	a0001c0001t0001g0002 a0001c0001t0001g0133 a0001c0001t0003g0096 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0133 a0001c0001t0003g0096 a0001c0001t0017g0102 a0001c0001t0017g0103 a0001c0002t0002g0107 a0001c0008t0001g0095 a0002c0003t0001g0013 a0002c0003t0001g0025 a0002c0003t0001g0055 a0002c0003t0001g0077 a0002c0003t0003g0028 a0002c0003t0003g0035 a0002c0003t0003g0060 a0002c0003t0003g0064 a0002c0003t0004g0063 a0002c0003t0004g0065 a0002c0003t0011g0015 a0002c0003t0013g0036 a0002c0003t0021g0052 a0002c0006t0002g0031 a0002c0006t0004g0072 a0004c0012t0022g0269 a0013c0015t0005g0027 a0018c0026t0012g0078 a0021c0024t0001g0056	27	278	0.0971	21	c.67+ others(38): Show c.67+13131_67+13132insTTTCCTTTCTTTCCTTCCTTC		IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20						chr11	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(64): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02630.hp1 HG02809.hp1 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 NA18612.hp2 NA18941.hp2 NA18947.hp1 NA18949.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18973.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA19005.hp2 NA19006.hp2 NA19068.hp1 NA19085.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0008 others(1): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0007t0001 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0042 others(63): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0306 a0001c0001t0001g0322 a0001c0007t0001g0129 a0001c0008t0001g0219 a0002c0002t0001g0008 a0002c0002t0001g0017 a0002c0002t0001g0083 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0152 a0002c0002t0001g0199 a0002c0002t0001g0226 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0235 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0247 a0002c0002t0001g0255 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0275 a0002c0002t0001g0280 a0002c0002t0001g0288 a0002c0002t0001g0291	67	344	0.1948	21	c.76 others(30): Show c.765_*766insAAAAAAAAAAAAAAAAAAAAA		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding					491		chr12	TogoVar
IRAK2_chr3_10159919_10248745	10224538	A A	ACCCTGCA others(14): Show ACCCTGCACCCTGCACCCTGCG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG02738.hp1 others(3): Show HG00544.hp1 HG00558.hp2 HG02738.hp1 HG03831.hp2 NA18970.hp1 NA19082.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0016 a0007c0011 others(1): Show a0001c0001 a0001c0016 a0007c0011 a0007c0013	a0001c0001t0001 a0001c0016t0004 a0007c0011t0004 others(1): Show a0001c0001t0001 a0001c0016t0004 a0007c0011t0004 a0007c0013t0001	a0001c0001t0001g0238 a0001c0016t0004g0237 a0007c0011t0004g0014 others(3): Show a0001c0001t0001g0238 a0001c0016t0004g0237 a0007c0011t0004g0014 a0007c0011t0004g0153 a0007c0011t0004g0254 a0007c0013t0001g0112	6	292	0.0206	21	c.120 others(40): Show c.1209+1709_1209+1710insCTGCACCCTGCACCCTGCGCC		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
IREB2_chr15_78433216_78506453	78504595	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01981.hp2 HG02056.hp1 others(2): Show HG00673.hp1 HG01981.hp2 HG02056.hp1 NA18962.hp1 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0209 a0001c0002t0003g0210 others(2): Show a0001c0002t0003g0003 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0242 a0001c0002t0003g0243	5	420	0.0119	21	c.64 others(32): Show c.6452_*6453insAAAAAAAAAAAAAAAAAAAAA		IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding					3143		chr15	TogoVar
IRF1_chr5_132476609_132495773	132485849	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02486.hp2 HG00738.hp1 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0038 a0001c0002t0010 a0001c0002t0038	a0001c0002t0010g0087 a0001c0002t0038g0083 a0001c0002t0010g0087 a0001c0002t0038g0083	2	436	0.0046	21	c.668 others(36): Show c.668-134_668-133insGTGTGTGTGTGTGTGTGTGTG		IRF1	ENSG00000125347.15	transcript	ENST00000245414.9	protein_coding	7/9						chr5	TogoVar
IRF2BPL_chr14_77019543_77033708	77027424	C C	CTGCTGCT others(14): Show CTGCTGCTGCTGCTGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00423.hp1	a0009 a0009	a0009c0033 a0009c0033	a0009c0033t0049 a0009c0033t0049	a0009c0033t0049g0000 a0009c0033t0049g0000	1	414	0.0024	21	c.368 others(28): Show c.368_369insACAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln117_Gln123dup	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1284/4166	368/2391	123/796			chr14	TogoVar
IRF2_chr4_184382729_184479550	184452770	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	376	0.0027	21	c.-7+ others(38): Show c.-7+21588_-7+21608dupTTTTTTTTTTTTTTTTTTTTT		IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	1/8						chr4	TogoVar
IRF6_chr1_209780617_209811142	209806757	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG03130.hp1 HG03491.hp1 HG01256.hp2 HG03130.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0001 a0001c0001t0001g0083 a0001c0001t0001g0093	3	428	0.0070	21	c.-88 others(30): Show c.-887_-886insAAAAAAAAAAAAAAAAAAAAA		IRF6	ENSG00000117595.13	transcript	ENST00000367021.8	protein_coding					616		chr1	TogoVar
IRF6_chr1_209780617_209811142	209806895	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0226 a0001c0002t0006g0226	1	428	0.0023	21	c.-10 others(32): Show c.-1025_-1024insAAAAAAAAAAAAAAAAAAAAA		IRF6	ENSG00000117595.13	transcript	ENST00000367021.8	protein_coding					754		chr1	TogoVar
IRF8_chr16_85894162_85927606	85904812	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01071.hp1 HG01099.hp1 others(21): Show HG00408.hp2 HG01071.hp1 HG01099.hp1 HG01169.hp1 HG01943.hp1 HG02165.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03540.hp2 HG04199.hp2 NA18747.hp2 NA18942.hp2 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18967.hp2 NA18986.hp1 NA18989.hp2 NA19062.hp2 NA19070.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0005 a0001c0004t0006	a0001c0001t0002g0166 a0001c0001t0003g0228 a0001c0001t0003g0233 others(12): Show a0001c0001t0002g0166 a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0004g0008 a0001c0001t0004g0061 a0001c0001t0004g0143 a0001c0001t0004g0145 a0001c0001t0004g0151 a0001c0001t0004g0227 a0001c0001t0004g0240 a0001c0001t0004g0243 a0001c0003t0005g0229 a0001c0004t0006g0230 a0001c0004t0006g0231 a0001c0004t0006g0232	24	432	0.0556	21	c.174 others(38): Show c.174+1643_174+1644insTTTTTTTTTTTTTTTTTTTTT		IRF8	ENSG00000140968.12	transcript	ENST00000268638.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0231 a0001c0002t0002g0231	1	278	0.0036	21	c.21 others(40): Show c.21+28825_*21+28826insAAAAAAAAATATATATATATA		IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1						chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01192.hp2 HG02071.hp1 others(2): Show HG00438.hp1 HG01192.hp2 HG02071.hp1 HG02129.hp1 NA18971.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0055 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0055 a0001c0002t0002 a0003c0006t0001	a0001c0001t0001g0136 a0001c0001t0055g0145 a0001c0002t0002g0238 others(2): Show a0001c0001t0001g0136 a0001c0001t0055g0145 a0001c0002t0002g0238 a0001c0002t0002g0239 a0003c0006t0001g0106	5	278	0.0180	21	c.21 others(40): Show c.21+28825_*21+28826insAAAAAAAAAAAAATATATATA		IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1						chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03927.hp1 NA20905.hp1 HG02896.hp1 HG03927.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0001t0060 a0001c0005t0009 a0001c0001t0007 a0001c0001t0060 a0001c0005t0009	a0001c0001t0007g0130 a0001c0001t0060g0192 a0001c0005t0009g0060 a0001c0001t0007g0130 a0001c0001t0060g0192 a0001c0005t0009g0060	3	278	0.0108	21	c.21 others(40): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAATATATA		IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1						chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02615.hp2 HG01192.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0003 a0001c0015t0001 a0001c0001t0003 a0001c0015t0001	a0001c0001t0003g0204 a0001c0015t0001g0102 a0001c0001t0003g0204 a0001c0015t0001g0102	2	278	0.0072	21	c.21 others(40): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAAAATATA		IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1						chr2	TogoVar
IRX4_chr5_1872413_1887925	1879418	G G	GACCCCCA others(14): Show GACCCCCAAGACGTCCTAGAAC	intron_variant intron_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0039 a0001c0003t0003g0039	1	436	0.0023	21	c.736 others(34): Show c.736+65_736+85dupGTTCTAGGACGTCTTGGGGGT		IRX4	ENSG00000113430.10	transcript	ENST00000231357.7	protein_coding	4/4						chr5	TogoVar
ISM1_chr20_13216274_13305651	13221219	A A	ACTCCTAC others(14): Show ACTCCTACTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	396	0.0025	21	c.-55 others(30): Show c.-558_-557insCTCCTACTCCTCCTCCTCCTC		ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding					54		chr20	TogoVar
ISM1_chr20_13216274_13305651	13221219	A A	ACTCCTCC others(14): Show ACTCCTCCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	396	0.0025	21	c.-55 others(30): Show c.-558_-557insCTCCTCCTCCTCCTCCTCCTC		ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding					54		chr20	TogoVar
ISYNA1_chr19_18429388_18443133	18434843	T T	TGGGGGCC others(14): Show TGGGGGCCTTCAAGGTAGGGTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	308	0.0033	21	c.49 others(28): Show c.49_*69dupGACCCTACCTTGAAGGCCCCC		ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding	11/11				69		chr19	TogoVar
ITGA1_chr5_52782916_52964209	52872575	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG01099.hp2 others(13): Show HG00609.hp1 HG00639.hp1 HG01099.hp2 HG01257.hp2 HG01496.hp2 HG02273.hp1 HG02273.hp2 NA18939.hp1 NA18946.hp1 NA18963.hp1 NA18973.hp1 NA18988.hp2 NA18999.hp2 NA19003.hp1 NA19060.hp1 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0002c0010 others(3): Show a0001c0003 a0001c0004 a0002c0010 a0003c0005 a0003c0008 a0003c0011	a0001c0003t0001 a0001c0003t0006 a0001c0003t0011 others(12): Show a0001c0003t0001 a0001c0003t0006 a0001c0003t0011 a0001c0003t0012 a0001c0004t0005 a0001c0004t0007 a0001c0004t0010 a0001c0004t0015 a0001c0004t0033 a0002c0010t0023 a0003c0005t0001 a0003c0008t0004 a0003c0008t0008 a0003c0011t0008 a0003c0011t0009	a0001c0003t0001g0136 a0001c0003t0006g0200 a0001c0003t0011g0262 others(13): Show a0001c0003t0001g0136 a0001c0003t0006g0200 a0001c0003t0011g0262 a0001c0003t0012g0269 a0001c0004t0005g0161 a0001c0004t0007g0201 a0001c0004t0010g0112 a0001c0004t0015g0267 a0001c0004t0033g0106 a0002c0010t0023g0313 a0002c0010t0023g0314 a0003c0005t0001g0194 a0003c0008t0004g0124 a0003c0008t0008g0310 a0003c0011t0008g0305 a0003c0011t0009g0260	16	322	0.0497	21	c.624 others(38): Show c.624+6776_624+6777insTTTTTTTTTTTTTTTTTTTTT		ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	6/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA1_chr5_52782916_52964209	52904522	A A	AGAAAATC others(14): Show AGAAAATCAAAAGTAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG02145.hp1 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0055 a0002c0009t0034 a0001c0002t0055 a0002c0009t0034	a0001c0002t0055g0285 a0002c0009t0034g0188 a0001c0002t0055g0285 a0002c0009t0034g0188	2	322	0.0062	21	c.131 others(40): Show c.1310-1239_1310-1238insAAATCAAAAGTAGAAAAAGGA		ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA2B_chr17_44367181_44394649	44368147	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	354	0.0028	21	c.42 others(32): Show c.4216_*4217insTATATATATATATATATATAT		ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding					4033		chr17	TogoVar
ITGA4_chr2_181452386_181543940	181526821	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0196 a0001c0009t0002g0196	1	368	0.0027	21	c.234 others(38): Show c.2340-464_2340-444dupTTTTTTTTTTTTTTTTTTTTT		ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA8_chr10_15508954_15724922	15549201	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18968.hp2 NA18906.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0161 a0001c0001t0004g0171 a0001c0001t0002g0161 a0001c0001t0004g0171	2	220	0.0091	21	c.276 others(38): Show c.2767-654_2767-634dupAAAAAAAAAAAAAAAAAAAAA		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	26/29						chr10	TogoVar
ITGA9_chr3_37447141_37828507	37512120	C C	CTTTTCTT others(14): Show CTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0079 a0002c0002t0006g0079	1	168	0.0060	21	c.898 others(38): Show c.898-1640_898-1639insTCTTTTCTTTTCTTTTCTTTT		ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAE_chr17_3709628_3806188	3711370	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01258.hp1 HG04228.hp2 others(5): Show HG01175.hp1 HG01258.hp1 HG04228.hp2 NA18959.hp2 NA18970.hp1 NA18971.hp1 NA19085.hp1 NA19087.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0018 a0005c0005 a0002c0002 a0002c0018 a0005c0005	a0002c0002t0001 a0002c0018t0001 a0005c0005t0001 a0002c0002t0001 a0002c0018t0001 a0005c0005t0001	a0002c0002t0001g0081 a0002c0002t0001g0092 a0002c0002t0001g0114 others(5): Show a0002c0002t0001g0081 a0002c0002t0001g0092 a0002c0002t0001g0114 a0002c0002t0001g0190 a0002c0002t0001g0301 a0002c0018t0001g0074 a0002c0018t0001g0124 a0005c0005t0001g0220	8	302	0.0265	21	c.34 others(32): Show c.3476_*3477insAAAAAAAAAAAAAAAAAAAAA		ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding					3257		chr17	TogoVar
ITGAL_chr16_30467742_30528185	30493245	C C	CATTTTAT others(14): Show CATTTTATTTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18942.hp2 NA19068.hp1 HG02683.hp2 NA18942.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0050 a0001c0001t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0050	3	318	0.0094	21	c.121 others(38): Show c.1214-957_1214-956insTATTTTATTTTATTTTATTTT		ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	11/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	308	0.0033	21	c.243 others(38): Show c.2433+441_2433+442insATATATATATATATATTTTTT		ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	308	0.0033	21	c.243 others(38): Show c.2433+441_2433+442insATATATATATATATTTTTTTT		ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02145.hp2 HG01361.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0220 a0001c0001t0001g0074 a0001c0001t0001g0220	2	308	0.0065	21	c.243 others(38): Show c.2433+441_2433+442insATATATATATATTTTTTTTTT		ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18994.hp1 HG02056.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0231 a0001c0001t0001g0173 a0001c0001t0001g0231	2	308	0.0065	21	c.243 others(38): Show c.2433+441_2433+442insATATATATATTTTTTTTTTTT		ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	308	0.0033	21	c.243 others(38): Show c.2433+441_2433+442insATATATATTTTTTTTTTTTTT		ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAX_chr16_31350176_31387999	31382219	C C	CTTTTCTT others(14): Show CTTTTCTTTCTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 NA18984.hp1 NA18995.hp1 others(1): Show HG00438.hp2 NA18984.hp1 NA18995.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0010 a0001c0001t0010 a0002c0002t0010	a0001c0001t0010g0264 a0002c0002t0010g0083 a0002c0002t0010g0093 others(1): Show a0001c0001t0010g0264 a0002c0002t0010g0083 a0002c0002t0010g0093 a0002c0002t0010g0127	4	350	0.0114	21	c.31 others(30): Show c.315_*316insTCTTTCTTTTTTTTTTTTTTT		ITGAX	ENSG00000140678.17	transcript	ENST00000268296.9	protein_coding	30/30				316	INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB2_chr21_44880953_44925899	44884645	C C	CAGAGGGG others(14): Show CAGAGGGGAGGTGTAGATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	444	0.0023	21	c.17 others(32): Show c.1722_*1723insAGCCATCTACACCTCCCCTCT		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding					1307		chr21	TogoVar
ITGB2_chr21_44880953_44925899	44884726	A A	AGCTGGAG others(14): Show AGCTGGAGGGGAGGTGTAGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(64): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18961.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA19030.hp2 NA19067.hp2 NA19084.hp2 NA19087.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0020 a0001c0025 a0001c0026 a0001c0029 a0001c0033 a0001c0034 a0002c0036 a0002c0037 a0004c0045	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0003t0006 a0001c0004t0001 a0001c0006t0001 a0001c0006t0004 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001 a0001c0009t0001 a0001c0012t0004 a0001c0020t0004 a0001c0025t0004 a0001c0026t0004 a0001c0029t0004 a0001c0033t0004 a0001c0034t0001 a0002c0036t0004 a0002c0037t0004 a0004c0045t0004	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0041 others(61): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0081 a0001c0001t0001g0252 a0001c0001t0001g0288 a0001c0001t0001g0366 a0001c0001t0004g0013 a0001c0001t0004g0195 a0001c0001t0004g0201 a0001c0001t0004g0231 a0001c0001t0004g0280 a0001c0001t0004g0283 a0001c0001t0004g0299 a0001c0001t0004g0318 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0343 a0001c0001t0004g0345 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0361 a0001c0001t0004g0365 a0001c0001t0004g0368 a0001c0001t0004g0370 a0001c0001t0004g0389 a0001c0001t0004g0407 a0001c0001t0008g0226 a0001c0002t0001g0076 a0001c0002t0001g0249 a0001c0003t0006g0217 a0001c0003t0006g0324 a0001c0004t0001g0097 a0001c0006t0001g0349 a0001c0006t0001g0409 a0001c0006t0001g0415 a0001c0006t0004g0334 a0001c0006t0004g0406 a0001c0007t0001g0100 a0001c0007t0001g0151 a0001c0007t0004g0227 a0001c0007t0004g0332 a0001c0008t0001g0144 a0001c0009t0001g0064 a0001c0009t0001g0067 a0001c0009t0001g0196 a0001c0009t0001g0219 a0001c0009t0001g0344 a0001c0012t0004g0190 a0001c0012t0004g0194 a0001c0012t0004g0203 a0001c0012t0004g0236 a0001c0012t0004g0242 a0001c0012t0004g0264 a0001c0012t0004g0402 a0001c0020t0004g0207 a0001c0025t0004g0235 a0001c0026t0004g0103 a0001c0029t0004g0230 a0001c0033t0004g0206 a0001c0034t0001g0080 a0002c0036t0004g0279 a0002c0037t0004g0348 a0004c0045t0004g0335	67	444	0.1509	21	c.16 others(32): Show c.1641_*1642insAGTCTACACCTCCCCTCCAGC		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding					1226		chr21	TogoVar
ITGB2_chr21_44880953_44925899	44885124	C C	CTGCTGGA others(14): Show CTGCTGGAGGGGAGGTGTAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	444	0.0023	21	c.12 others(32): Show c.1243_*1244insATCTACACCTCCCCTCCAGCA		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding					828		chr21	TogoVar
ITGB2_chr21_44880953_44925899	44885545	T T	TGCTGGAG others(14): Show TGCTGGAGGGGAGGTGTAGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0175 a0001c0006t0003g0175	1	444	0.0023	21	c.82 others(30): Show c.822_*823insCATCTACACCTCCCCTCCAGC		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding					407		chr21	TogoVar
ITGB2_chr21_44880953_44925899	44896023	A A	ATCCCGCC others(14): Show ATCCCGCCTGCGGTGTGAGTGC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0316 a0001c0030t0001g0316	1	444	0.0023	21	c.994 others(36): Show c.994-984_994-964dupGCACTCACACCGCAGGCGGGA		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	8/15						chr21	TogoVar
ITGB2_chr21_44880953_44925899	44896023	A A	ATCCTGCC others(14): Show ATCCTGCCTGCGGTGTGAGTGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	444	0.0023	21	c.994 others(36): Show c.994-964_994-963insGCACTCACACCGCAGGCAGGA		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	8/15						chr21	TogoVar

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