Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
IRS1_chr2_226726312_226804820	226766163	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 NA18952.hp1 others(3): Show HG03098.hp1 HG03486.hp2 NA18952.hp1 NA18957.hp1 NA19079.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0003t0018 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0018 a0001c0005t0005	a0001c0001t0001g0129 a0001c0001t0003g0007 a0001c0003t0018g0021 others(2): Show a0001c0001t0001g0129 a0001c0001t0003g0007 a0001c0003t0018g0021 a0001c0003t0018g0022 a0001c0005t0005g0057	6	278	0.0216	18	c.21 others(37): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAAATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0150 a0001c0001t0006g0150	1	278	0.0036	18	c.21 others(37): Show c.21+28808_*21+28825dupAAAAAAAAAAAAAAAAAA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS4_chrX_108714946_108741563	108715248	C C	CTTCTTTT others(11): Show CTTCTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0017 a0001c0009t0002g0017	1	308	0.0033	18	c.72 others(29): Show c.7270_*7271insAAAAAAAAAAAAAAAGAA	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding		4697		chrX	TogoVar
IRX5_chr16_54925865_54939485	54928376	C C	CGGGGCGG others(11): Show CGGGGCGGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 NA18982.hp1 HG02273.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	390	0.0051	18	c.-28 others(29): Show c.-2823_-2822insGGGGCGGGGGCGGGGGCG	IRX5	ENSG00000176842.16	transcript	ENST00000394636.9	protein_coding		2488		chr16	TogoVar
IRX6_chr16_55319203_55335756	55325530	G G	GGAAGGAA others(11): Show GGAAGGAAAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	448	0.0022	18	c.45+ others(31): Show c.45+396_45+397insAGGAAAGAGAGAGAGAGA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRX6_chr16_55319203_55335756	55325531	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	448	0.0022	18	c.45+ others(31): Show c.45+396_45+397insAAGAAAGAAAGAAAGAAA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRX6_chr16_55319203_55335756	55325531	G G	GAAGGAAG others(11): Show GAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 NA18522.hp2 HG02572.hp1 HG02572.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016	a0001c0001t0005g0081 a0001c0001t0006g0079 a0001c0001t0016g0080 a0001c0001t0005g0081 a0001c0001t0006g0079 a0001c0001t0016g0080	3	448	0.0067	18	c.45+ others(31): Show c.45+396_45+397insAGGAAGGAAGGAAGGAAA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRX6_chr16_55319203_55335756	55325532	A A	AAGGAAGG others(11): Show AAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0082 a0003c0003t0003g0082	1	448	0.0022	18	c.45+ others(31): Show c.45+396_45+397insAGGAAGGAAGGAAGGAAG	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5			chr16	TogoVar
ISCA1_chr9_86259546_86287538	86268960	A A	AATTTTTT others(11): Show AATTTTTTGTATTTTTAGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp2 HG00741.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0066 a0001c0001t0002g0067	2	410	0.0049	18	c.242 others(35): Show c.242-2787_242-2770dupACTAAAAATACAAAAAAT	ISCA1	ENSG00000135070.15	transcript	ENST00000375991.9	protein_coding	3/3			chr9	TogoVar
ISCA1_chr9_86259546_86287538	86271800	G G	GAAAAACA others(11): Show GAAAAACAGGGATAATATT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	410	0.0024	18	c.241 others(33): Show c.241+206_241+207insAATATTATCCCTGTTTTT	ISCA1	ENSG00000135070.15	transcript	ENST00000375991.9	protein_coding	3/3			chr9	TogoVar
ISM1_chr20_13216274_13305651	13221219	A A	ACTCCTCC others(11): Show ACTCCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02135.hp2 HG02602.hp1 HG00735.hp2 HG02135.hp2 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0323 a0001c0002t0001g0211 a0002c0003t0001g0375 a0001c0001t0001g0323 a0001c0002t0001g0211 a0002c0003t0001g0375	3	396	0.0076	18	c.-55 others(27): Show c.-558_-557insCTCCTCCTCCTCCTCCTC	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding		54		chr20	TogoVar
ISM1_chr20_13216274_13305651	13247517	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTCTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01891.hp2 HG01168.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0079 a0001c0001t0012g0057 a0001c0001t0008g0079 a0001c0001t0012g0057	2	396	0.0051	18	c.139 others(37): Show c.139-22973_139-22972insCTGTGTGTGTGTGTGTGT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ISM1_chr20_13216274_13305651	13273240	A A	ATTTTATT others(11): Show ATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	396	0.0025	18	c.378 others(35): Show c.378+2511_378+2512insATTTTTTTATTTTATTTT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ISY1_chr3_129122415_129166063	129149610	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0023 a0001c0001t0015g0023	1	366	0.0027	18	c.188 others(35): Show c.188-3755_188-3738dupATATATATATATATATAT	ISY1	ENSG00000240682.10	transcript	ENST00000393295.8	protein_coding	5/10			chr3	TogoVar
ITFG1_chr16_47149391_47466063	47307093	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03209.hp2 HG01074.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0087 a0001c0002t0002g0089	2	110	0.0182	18	c.107 others(37): Show c.1070+4129_1070+4146dupTTTTTTTTTTTTTTTTTT	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	10/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47315768	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	110	0.0091	18	c.803 others(35): Show c.803-1946_803-1945insATATATATATATATATAT	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	8/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47396522	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0085	1	110	0.0091	18	c.656 others(37): Show c.656-20583_656-20582insCACACACACACACACACA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	110	0.0091	18	c.655 others(37): Show c.655+19399_655+19400insAATATATATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03209.hp1 HG01258.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0015 a0001c0001t0001g0047	2	110	0.0182	18	c.655 others(37): Show c.655+19399_655+19400insAAAATATATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	110	0.0091	18	c.655 others(37): Show c.655+19399_655+19400insAAAAAATATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITGA10_chr1_145886208_145915050	145886869	C C	CCCCCCGC others(11): Show CCCCCCGCCCCCGCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02622.hp1 others(7): Show HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03130.hp1 NA19240.hp1	a0003 a0005 a0003 a0005	a0003c0005 a0003c0013 a0005c0006 a0003c0005 a0003c0013 a0005c0006	a0003c0005t0001 a0003c0013t0001 a0005c0006t0005 a0003c0005t0001 a0003c0013t0001 a0005c0006t0005	a0003c0005t0001g0195 a0003c0005t0001g0197 a0003c0005t0001g0200 others(6): Show a0003c0005t0001g0195 a0003c0005t0001g0197 a0003c0005t0001g0200 a0003c0005t0001g0201 a0003c0013t0001g0095 a0003c0013t0001g0096 a0005c0006t0005g0033 a0005c0006t0005g0034 a0005c0006t0005g0070	10	390	0.0256	18	c.59 others(29): Show c.5928_*5929insCGGGGGCGGGGGCGGGGG	ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding		4338		chr1	TogoVar
ITGA10_chr1_145886208_145915050	145905059	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0008 a0016c0020t0008	a0016c0020t0008g0072 a0016c0020t0008g0072	1	390	0.0026	18	c.482 others(33): Show c.482-249_482-248insGTGTGTGTGTGTGTGTGT	ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding	5/29			chr1	TogoVar
ITGA11_chr15_68291532_68437163	68302055	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG02132.hp1 HG02809.hp1 others(2): Show HG01074.hp2 HG02132.hp1 HG02809.hp1 NA18906.hp1 NA19090.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0003 a0001c0005 a0003c0014 others(1): Show a0001c0003 a0001c0005 a0003c0014 a0007c0007	a0001c0003t0056 a0001c0005t0054 a0001c0005t0055 others(2): Show a0001c0003t0056 a0001c0005t0054 a0001c0005t0055 a0003c0014t0108 a0007c0007t0053	a0001c0003t0056g0157 a0001c0005t0054g0227 a0001c0005t0055g0242 others(2): Show a0001c0003t0056g0157 a0001c0005t0054g0227 a0001c0005t0055g0242 a0003c0014t0108g0008 a0007c0007t0053g0110	5	242	0.0207	18	c.98 others(28): Show c.986_*1003dupACACACACACACACACAC	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	30/30	1003		chr15	TogoVar
ITGA11_chr15_68291532_68437163	68342997	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0105 a0004c0013t0105	a0004c0013t0105g0031 a0004c0013t0105g0031	1	242	0.0041	18	c.113 others(37): Show c.1132-3371_1132-3354dupGAGAGAGAGAGAGAGAGA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	10/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68433478	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00621.hp2 others(21): Show HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01978.hp2 HG02615.hp2 HG02976.hp2 HG03486.hp2 HG03654.hp1 HG03688.hp2 HG04204.hp1 NA18955.hp1 NA18977.hp1 NA19007.hp1 NA19091.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0009 a0012	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0036 a0001c0037 a0001c0056 a0002c0008 a0002c0012 a0003c0004 a0003c0009 a0003c0057 a0004c0010 a0006c0025 a0009c0050 a0012c0045	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 others(20): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0059 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0052 a0001c0003t0075 a0001c0005t0049 a0001c0036t0031 a0001c0037t0031 a0001c0056t0014 a0002c0008t0010 a0002c0012t0004 a0002c0012t0036 a0003c0004t0009 a0003c0009t0032 a0003c0057t0024 a0004c0010t0015 a0006c0025t0078 a0009c0050t0001 a0012c0045t0117	a0001c0001t0006g0196 a0001c0001t0007g0194 a0001c0001t0009g0168 others(21): Show a0001c0001t0006g0196 a0001c0001t0007g0194 a0001c0001t0009g0168 a0001c0001t0059g0185 a0001c0002t0002g0188 a0001c0002t0003g0189 a0001c0002t0006g0207 a0001c0002t0052g0199 a0001c0003t0075g0164 a0001c0005t0049g0183 a0001c0036t0031g0175 a0001c0037t0031g0174 a0001c0056t0014g0082 a0002c0008t0010g0177 a0002c0008t0010g0178 a0002c0012t0004g0201 a0002c0012t0036g0213 a0003c0004t0009g0169 a0003c0009t0032g0170 a0003c0057t0024g0045 a0004c0010t0015g0131 a0006c0025t0078g0195 a0009c0050t0001g0216 a0012c0045t0117g0007	24	242	0.0992	18	c.-14 others(29): Show c.-1413_-1412insACACACACACACACACAC	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding		1316		chr15	TogoVar
ITGA1_chr5_52782916_52964209	52962753	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0310 a0003c0008t0008g0310	1	322	0.0031	18	c.10 others(31): Show c.10302_*10303insATATATATATATATATAT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3545		chr5	TogoVar
ITGA2B_chr17_44367181_44394649	44368101	A A	AAAATATA others(11): Show AAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	354	0.0028	18	c.42 others(29): Show c.4262_*4263insATATATATATATATATTT	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4079		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368103	A A	AATATATA others(11): Show AATATATATATATATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	354	0.0028	18	c.42 others(29): Show c.4260_*4261insATTTATATATATATATAT	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4077		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368119	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	354	0.0028	18	c.42 others(29): Show c.4244_*4245insATATATATATATATATAT	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4061		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368146	A A	ATATATAT others(11): Show ATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	354	0.0028	18	c.42 others(29): Show c.4217_*4218insAATATATATATATATATA	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4034		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368146	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	354	0.0028	18	c.42 others(29): Show c.4217_*4218insAAAAAATATATATATATA	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4034		chr17	TogoVar
ITGA4_chr2_181452386_181543940	181460566	A A	AATGTGTG others(11): Show AATGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00738.hp2 others(10): Show HG00099.hp2 HG00597.hp1 HG00738.hp2 HG01496.hp1 NA18954.hp1 NA18964.hp2 NA18968.hp2 NA18986.hp1 NA18998.hp1 NA19000.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0006 a0001c0001t0007 a0001c0002t0009 others(3): Show a0001c0001t0006 a0001c0001t0007 a0001c0002t0009 a0002c0003t0005 a0002c0003t0025 a0002c0003t0027	a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 others(7): Show a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0007g0267 a0001c0002t0009g0265 a0001c0002t0009g0268 a0002c0003t0005g0001 a0002c0003t0005g0270 a0002c0003t0025g0266 a0002c0003t0027g0269	13	368	0.0353	18	c.319 others(35): Show c.319+2249_319+2250insATGTGTGTGTGTGTGTGT	ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding	2/27			chr2	TogoVar
ITGA4_chr2_181452386_181543940	181526821	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01099.hp1 others(12): Show HG00423.hp2 HG00438.hp2 HG01099.hp1 HG02132.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03209.hp1 HG03579.hp2 HG03942.hp2 NA18974.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0001c0007t0002	a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0102 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0152 a0001c0001t0002g0027 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0311 a0001c0001t0006g0251 a0001c0002t0003g0335 a0001c0007t0002g0079	15	368	0.0408	18	c.234 others(35): Show c.2340-461_2340-444dupTTTTTTTTTTTTTTTTTT	ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506810	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02055.hp2 HG02080.hp2 others(6): Show HG01978.hp1 HG02055.hp2 HG02080.hp2 HG02293.hp1 HG02572.hp1 HG03130.hp1 HG03516.hp1 HG03516.hp2 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0023 a0002c0005t0003 a0002c0005t0017 others(1): Show a0001c0002t0023 a0002c0005t0003 a0002c0005t0017 a0002c0005t0037	a0001c0002t0023g0023 a0002c0005t0003g0041 a0002c0005t0003g0070 others(6): Show a0001c0002t0023g0023 a0002c0005t0003g0041 a0002c0005t0003g0070 a0002c0005t0003g0087 a0002c0005t0003g0128 a0002c0005t0003g0153 a0002c0005t0017g0257 a0002c0005t0017g0258 a0002c0005t0037g0099	9	352	0.0256	18	c.25 others(29): Show c.2558_*2559insACACACACACACACACAC	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		352		chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506840	C C	CACACACA others(11): Show CACACACACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01081.hp2 others(4): Show HG00140.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG02698.hp1 NA18747.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016	a0001c0002t0002g0178 a0001c0002t0004g0002 a0001c0002t0004g0040 others(4): Show a0001c0002t0002g0178 a0001c0002t0004g0002 a0001c0002t0004g0040 a0001c0002t0004g0187 a0001c0002t0004g0193 a0001c0002t0004g0207 a0001c0002t0016g0330	7	352	0.0199	18	c.25 others(29): Show c.2588_*2589insACACACACACACACACAT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		382		chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506840	C C	CACACACA others(11): Show CACACACACACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0297 a0001c0002t0002g0297	1	352	0.0028	18	c.25 others(29): Show c.2588_*2589insACACACACACACACATAT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		382		chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506840	C C	CACACACA others(11): Show CACACACACACACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02129.hp2 NA19007.hp1 HG02080.hp1 HG02129.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0323 a0001c0002t0002g0006 a0001c0002t0002g0323	3	352	0.0085	18	c.25 others(29): Show c.2588_*2589insACACACACACACATATAT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding		382		chr2	TogoVar
ITGA8_chr10_15508954_15724922	15549201	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02895.hp2 HG01361.hp1 HG02895.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0004 a0001c0001t0002 a0005c0005t0004	a0001c0001t0002g0137 a0005c0005t0004g0149 a0001c0001t0002g0137 a0005c0005t0004g0149	2	220	0.0091	18	c.276 others(35): Show c.2767-651_2767-634dupAAAAAAAAAAAAAAAAAA	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	26/29			chr10	TogoVar
ITGA8_chr10_15508954_15724922	15565573	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19087.hp2 NA18951.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0007 a0003c0003t0007 a0001c0001t0007 a0003c0003t0007	a0001c0001t0007g0018 a0003c0003t0007g0012 a0001c0001t0007g0018 a0003c0003t0007g0012	2	220	0.0091	18	c.263 others(37): Show c.2637+6620_2637+6637dupAAAAAAAAAAAAAAAAAA	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	25/29			chr10	TogoVar
ITGA8_chr10_15508954_15724922	15694678	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00741.hp1 others(13): Show HG00323.hp1 HG00621.hp2 HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01433.hp1 HG01978.hp1 HG02109.hp1 HG02451.hp1 HG02723.hp1 HG02723.hp2 HG03540.hp2 NA20129.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0007 a0001c0014 others(2): Show a0001c0001 a0001c0007 a0001c0014 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0007t0002 a0001c0014t0003 a0002c0002t0005 a0007c0009t0002	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 others(13): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0060 a0001c0001t0003g0103 a0001c0001t0004g0095 a0001c0001t0007g0008 a0001c0001t0026g0003 a0001c0007t0002g0138 a0001c0014t0003g0159 a0002c0002t0005g0126 a0002c0002t0005g0136 a0007c0009t0002g0191	16	220	0.0727	18	c.344 others(35): Show c.344-6658_344-6641dupATATATATATATATATAT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGA8_chr10_15508954_15724922	15697046	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0015 a0004c0004t0015	a0004c0004t0015g0052 a0004c0004t0015g0052	1	220	0.0046	18	c.344 others(35): Show c.344-9026_344-9009dupGTGTGTGTGTGTGTGTGT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGA9_chr3_37447141_37828507	37518093	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp1 others(23): Show HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01167.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG02080.hp2 HG03195.hp1 HG03669.hp1 HG03710.hp2 NA18943.hp1 NA18952.hp2 NA18964.hp1 NA18970.hp2 NA18972.hp1 NA18980.hp1 NA18998.hp2 NA19011.hp1 NA19012.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0023 a0001c0001 a0001c0005 a0007c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0006 a0007c0023t0013	a0001c0001t0001g0029 a0001c0001t0001g0073 a0001c0001t0001g0089 others(23): Show a0001c0001t0001g0029 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0133 a0001c0001t0002g0043 a0001c0001t0002g0162 a0001c0001t0003g0080 a0001c0001t0004g0001 a0001c0001t0004g0015 a0001c0001t0004g0047 a0001c0001t0004g0059 a0001c0001t0004g0075 a0001c0001t0004g0085 a0001c0001t0004g0090 a0001c0001t0004g0123 a0001c0001t0004g0134 a0001c0001t0005g0127 a0001c0001t0006g0060 a0001c0001t0006g0078 a0001c0001t0019g0077 a0001c0005t0002g0135 a0001c0005t0003g0151 a0001c0005t0004g0093 a0001c0005t0004g0142 a0001c0005t0006g0131 a0007c0023t0013g0124	26	168	0.1548	18	c.114 others(35): Show c.1141+495_1141+512dupGTGTGTGTGTGTGTGTGT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA9_chr3_37447141_37828507	37818191	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18960.hp2 NA18980.hp1 NA18950.hp1 NA18960.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0031 a0001c0001t0004g0075 a0001c0001t0004g0026 a0001c0001t0004g0031 a0001c0001t0004g0075	3	168	0.0179	18	c.301 others(35): Show c.3010-691_3010-674dupAAAAAAAAAAAAAAAAAA	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAE_chr17_3709628_3806188	3711370	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0287 a0002c0002t0001g0287	1	302	0.0033	18	c.34 others(29): Show c.3476_*3477insAAAAAAAAAAAAAAAAAA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding		3257		chr17	TogoVar
ITGAE_chr17_3709628_3806188	3796121	C C	CTGTGTGT others(11): Show CTGTGTGTGTGCATCCGTG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0029 a0029	a0029c0042 a0029c0042	a0029c0042t0001 a0029c0042t0001	a0029c0042t0001g0073 a0029c0042t0001g0073	1	302	0.0033	18	c.34+ others(33): Show c.34+4989_34+4990insCACGGATGCACACACACA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAE_chr17_3709628_3806188	3796170	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG03130.hp1 others(2): Show HG02280.hp2 HG02886.hp2 HG03130.hp1 HG03195.hp1 HG04204.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0019	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0019c0028	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0019c0028t0001	a0001c0001t0001g0041 a0002c0002t0001g0254 a0004c0004t0001g0017 others(2): Show a0001c0001t0001g0041 a0002c0002t0001g0254 a0004c0004t0001g0017 a0004c0004t0001g0068 a0019c0028t0001g0146	5	302	0.0166	18	c.34+ others(33): Show c.34+4923_34+4940dupACACACACACACACACAC	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAM_chr16_31254975_31337877	31270130	C C	CTTCCTTC others(11): Show CTTCCTTCCTCCTTTGCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0160 a0001c0005t0004g0160	1	244	0.0041	18	c.428 others(33): Show c.428-823_428-822insTCCTTCCTCCTTTGCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270699	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	244	0.0041	18	c.428 others(33): Show c.428-254_428-253insGTATATATATATATATAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270699	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02109.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0151 a0001c0005t0004g0158 a0001c0005t0004g0151 a0001c0005t0004g0158	2	244	0.0082	18	c.428 others(33): Show c.428-254_428-253insGTGTATATATATATATAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270699	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18975.hp2 HG02809.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0004 a0001c0002t0002 a0001c0007t0004	a0001c0002t0002g0168 a0001c0007t0004g0146 a0001c0002t0002g0168 a0001c0007t0004g0146	2	244	0.0082	18	c.428 others(33): Show c.428-254_428-253insGTGTGTATATATATATAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar

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