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	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
INSM2_chr14_35529164_35542054	35541040	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG01255.hp1 others(20): Show HG00733.hp2 HG01175.hp1 HG01255.hp1 HG02040.hp1 HG02083.hp2 HG02135.hp1 HG04184.hp2 HG04204.hp1 NA18952.hp1 NA18969.hp1 NA18975.hp2 NA18981.hp1 NA18984.hp2 NA18989.hp1 NA19003.hp1 NA19010.hp1 NA19054.hp2 NA19057.hp1 NA19076.hp1 NA19080.hp2 NA19086.hp2 NA19088.hp1 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0013 a0008c0009 a0001c0001 a0001c0013 a0008c0009	a0001c0001t0001 a0001c0013t0001 a0008c0009t0001 a0001c0001t0001 a0001c0013t0001 a0008c0009t0001	a0001c0001t0001g0000 a0001c0013t0001g0000 a0008c0009t0001g0000 a0001c0001t0001g0000 a0001c0013t0001g0000 a0008c0009t0001g0000	23	402	0.0572	18	c.50 others(29): Show c.5087_*5088insTTTTTTTTTTTTTTTTTT	INSM2	ENSG00000168348.4	transcript	ENST00000307169.4	protein_coding		3987		chr14	TogoVar
INSRR_chr1_156835063_156864117	156855210	A A	ATCTATCT others(11): Show ATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	356	0.0028	18	c.86- others(31): Show c.86-908_86-907insGATAGATAGATAGATAGA	INSRR	ENSG00000027644.5	transcript	ENST00000368195.4	protein_coding	1/21			chr1	TogoVar
INSR_chr19_7107265_7299414	7163925	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0160 a0001c0021t0160	a0001c0021t0160g0291 a0001c0021t0160g0291	1	300	0.0033	18	c.186 others(35): Show c.1862-744_1862-727dupTTTTTTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	8/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7184060	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01175.hp2 HG02004.hp1 others(1): Show HG00597.hp2 HG01175.hp2 HG02004.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0024 a0001c0004 a0001c0007 a0001c0024	a0001c0004t0145 a0001c0007t0001 a0001c0007t0137 others(1): Show a0001c0004t0145 a0001c0007t0001 a0001c0007t0137 a0001c0024t0119	a0001c0004t0145g0128 a0001c0007t0001g0269 a0001c0007t0137g0267 others(1): Show a0001c0004t0145g0128 a0001c0007t0001g0269 a0001c0007t0137g0267 a0001c0024t0119g0265	4	300	0.0133	18	c.974 others(33): Show c.974+255_974+256insTTTTTTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	3/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7197514	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01109.hp1 others(6): Show HG00280.hp2 HG00642.hp1 HG01109.hp1 HG01346.hp2 HG01952.hp2 HG02976.hp2 NA18993.hp2 NA19000.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0059	a0001c0001t0020 a0001c0002t0001 a0001c0002t0152 others(4): Show a0001c0001t0020 a0001c0002t0001 a0001c0002t0152 a0001c0003t0059 a0001c0004t0025 a0001c0004t0035 a0001c0059t0013	a0001c0001t0020g0057 a0001c0002t0001g0172 a0001c0002t0001g0181 others(6): Show a0001c0001t0020g0057 a0001c0002t0001g0172 a0001c0002t0001g0181 a0001c0002t0001g0223 a0001c0002t0152g0218 a0001c0003t0059g0075 a0001c0004t0025g0049 a0001c0004t0035g0151 a0001c0059t0013g0187	9	300	0.0300	18	c.653 others(37): Show c.653-12878_653-12877insACACACACACACACACAC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSYN1_chr15_73730458_73758351	73731329	C C	CCCCCTTC others(11): Show CCCCCTTCCCCTTCCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18959.hp1 NA19081.hp1 NA18747.hp1 NA18959.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0025 a0001c0002t0090 a0001c0002t0001 a0001c0002t0025 a0001c0002t0090	a0001c0002t0001g0002 a0001c0002t0025g0167 a0001c0002t0090g0174 a0001c0002t0001g0002 a0001c0002t0025g0167 a0001c0002t0090g0174	3	406	0.0074	18	c.85 others(29): Show c.8587_*8588insAAGGGGAAGGGGAAGGGG	INSYN1	ENSG00000205363.7	transcript	ENST00000569673.3	protein_coding		4128		chr15	TogoVar
INSYN2B_chr5_169856303_169985495	169943687	C C	CTGGGATC others(11): Show CTGGGATCAGTGGAATCAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	318	0.0031	18	c.-91 others(39): Show c.-919+36572_-919+36589dupCTGATTCCACTGATCCCA	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3			chr5	TogoVar
INSYN2B_chr5_169856303_169985495	169961978	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01074.hp1 others(24): Show HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01261.hp1 HG01433.hp1 HG01978.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG03041.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA18950.hp1 NA18967.hp2 NA18968.hp2 NA19010.hp1 NA19060.hp2 NA19074.hp2 NA19077.hp1 NA19082.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0022 a0002c0002t0001 a0002c0002t0005 a0002c0002t0006	a0001c0001t0002g0012 a0001c0001t0002g0037 a0001c0001t0002g0123 others(24): Show a0001c0001t0002g0012 a0001c0001t0002g0037 a0001c0001t0002g0123 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0268 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0300 a0001c0001t0004g0152 a0001c0001t0007g0133 a0001c0001t0022g0305 a0002c0002t0001g0004 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0195 a0002c0002t0001g0244 a0002c0002t0005g0025 a0002c0002t0005g0098 a0002c0002t0006g0081 a0002c0002t0006g0278	27	318	0.0849	18	c.-91 others(39): Show c.-919+18298_-919+18299insTTTTTTTTTTTTTTTTTT	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3			chr5	TogoVar
INSYN2B_chr5_169856303_169985495	169976672	A A	AAATGAAG others(11): Show AAATGAAGAGTGTGTAATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG03225.hp2 others(1): Show HG02622.hp2 HG02647.hp2 HG03225.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0005 a0001c0001t0003 a0002c0002t0005	a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0082 others(1): Show a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0082 a0002c0002t0005g0006	4	318	0.0126	18	c.-91 others(37): Show c.-919+3587_-919+3604dupCATTACACACTCTTCATT	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3			chr5	TogoVar
INTS11_chr1_1306600_1329660	1308546	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	354	0.0028	18	c.33 others(29): Show c.3312_*3313insCCCCCCCCCCCCCCCCCC	INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding		3053		chr1	TogoVar
INTS12_chr4_105677627_105713689	105700706	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02015.hp1 HG02622.hp1 others(6): Show HG00280.hp2 HG02015.hp1 HG02622.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 NA19030.hp2 NA19083.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0178 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0003t0001g0064 a0001c0003t0001g0066	9	312	0.0289	18	c.-9- others(31): Show c.-9-710_-9-693dupGTGTGTGTGTGTGTGTGT	INTS12	ENSG00000138785.16	transcript	ENST00000340139.10	protein_coding	2/7			chr4	TogoVar
INTS15_chr7_6585021_6613726	6598735	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	394	0.0025	18	c.581 others(35): Show c.581-1060_581-1043dupGTGTGTGTGTGTGTGTGT	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
INTS1_chr7_1465277_1509389	1472966	C C	CATCGGGA others(11): Show CATCGGGACGCCTCGGACG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	316	0.0032	18	c.607 others(34): Show c.6070+88_6070+105dupCGTCCGAGGCGTCCCGAT	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	43/47			chr7	TogoVar
INTS1_chr7_1465277_1509389	1504780	C C	CTAATAAT others(11): Show CTAATAATAATAATAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02615.hp1 HG02630.hp2 others(3): Show HG00673.hp2 HG02615.hp1 HG02630.hp2 HG03540.hp1 HG03579.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0169 a0001c0001t0001g0223	6	316	0.0190	18	c.-50 others(27): Show c.-500_-499insTTATTATTATTATTATTA	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		392		chr7	TogoVar
INTS1_chr7_1465277_1509389	1504781	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG03098.hp1 others(3): Show HG02280.hp2 HG02723.hp1 HG03098.hp1 HG03130.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0001c0019 a0001c0020 others(1): Show a0001c0018 a0001c0019 a0001c0020 a0002c0007	a0001c0018t0003 a0001c0019t0003 a0001c0020t0003 others(1): Show a0001c0018t0003 a0001c0019t0003 a0001c0020t0003 a0002c0007t0003	a0001c0018t0003g0108 a0001c0019t0003g0109 a0001c0020t0003g0110 others(2): Show a0001c0018t0003g0108 a0001c0019t0003g0109 a0001c0020t0003g0110 a0002c0007t0003g0027 a0002c0007t0003g0107	6	316	0.0190	18	c.-50 others(27): Show c.-501_-500insATTATTATTATTATTATT	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		393		chr7	TogoVar
INTS1_chr7_1465277_1509389	1506512	T T	TCCTCCCC others(11): Show TCCTCCCCCTCCCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA18906.hp2 HG06807.hp2 NA18906.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0057 a0004c0014t0002g0058 a0004c0014t0002g0057 a0004c0014t0002g0058	2	316	0.0063	18	c.-22 others(29): Show c.-2232_-2231insGGGAGGGGGAGGGGGAGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		2124		chr7	TogoVar
INTS1_chr7_1465277_1509389	1506521	T T	TCGCCCCC others(11): Show TCGCCCCCTCCCCCCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	316	0.0032	18	c.-22 others(29): Show c.-2241_-2240insTTGAGGGGGGAGGGGGCG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		2133		chr7	TogoVar
INTS1_chr7_1465277_1509389	1506671	T T	TCCTCCTC others(11): Show TCCTCCTCCCCCCTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0210 a0001c0011t0001g0210	1	316	0.0032	18	c.-23 others(29): Show c.-2391_-2390insGGAGGAGGGGGGAGGAGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		2283		chr7	TogoVar
INTS1_chr7_1465277_1509389	1506677	T T	TCCCCCTC others(11): Show TCCCCCTCCTCCCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0004 a0006c0032t0004	a0006c0032t0004g0205 a0006c0032t0004g0205	1	316	0.0032	18	c.-23 others(29): Show c.-2397_-2396insGAGGAGGGGAGGAGGGGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		2289		chr7	TogoVar
INTS1_chr7_1465277_1509389	1506694	T T	TCCCCCTC others(11): Show TCCCCCTCCTCCCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0035 a0003c0015t0001g0035	1	316	0.0032	18	c.-24 others(29): Show c.-2414_-2413insGAGGAGGGGAGGAGGGGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		2306		chr7	TogoVar
INTS2_chr17_61860367_61932982	61922511	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG02071.hp2 others(10): Show HG00621.hp1 HG00673.hp2 HG02071.hp2 HG02280.hp1 HG02965.hp1 HG03540.hp1 HG03669.hp2 HG06807.hp1 NA18612.hp2 NA18950.hp1 NA18970.hp2 NA19065.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0195 others(10): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0195 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0328 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0007g0356 a0001c0001t0016g0242	13	366	0.0355	18	c.433 others(33): Show c.433-702_433-685dupATATATATATATATATAT	INTS2	ENSG00000108506.14	transcript	ENST00000251334.7	protein_coding	3/24			chr17	TogoVar
INTS3_chr1_153723050_153779808	153725148	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	349	0.0029	18	c.-34 others(29): Show c.-3487_-3486insTCTCTCTCTCTCTCTCTC	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding		2901		chr1	TogoVar
INTS3_chr1_153723050_153779808	153725170	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0312 a0001c0002t0005g0312	1	349	0.0029	18	c.-34 others(29): Show c.-3465_-3464insTCTCTCTCTATATATATA	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding		2879		chr1	TogoVar
INTS3_chr1_153723050_153779808	153725170	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG04184.hp1 HG02683.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0044 a0001c0002t0002g0029 a0001c0002t0002g0044	2	349	0.0057	18	c.-34 others(29): Show c.-3465_-3464insTCTCTCTCTCTCTATATA	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding		2879		chr1	TogoVar
INTS3_chr1_153723050_153779808	153742478	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02615.hp1 others(4): Show HG01891.hp1 HG02109.hp2 HG02615.hp1 HG02683.hp1 HG02723.hp1 HG04204.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0002t0001g0057 a0001c0002t0002g0030 a0001c0002t0002g0031 others(4): Show a0001c0002t0001g0057 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0044 a0001c0002t0005g0313	7	349	0.0201	18	c.318 others(35): Show c.318+1123_318+1140dupTGTGTGTGTGTGTGTGTG	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
INTS4_chr11_77873720_77999668	77883075	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0292 a0002c0003t0001g0292	1	362	0.0028	18	c.271 others(35): Show c.2713+739_2713+756dupATTATTATTATTATTATT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	22/22			chr11	TogoVar
INTS4_chr11_77873720_77999668	77996359	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	362	0.0028	18	c.-17 others(29): Show c.-1717_-1716insTTTTTTTTTTTTTTTTTT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding		1692		chr11	TogoVar
INTS7_chr1_211935403_212040557	211974270	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG06807.hp1 HG03098.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0132 a0001c0001t0008g0032 a0001c0001t0004g0132 a0001c0001t0008g0032	2	352	0.0057	18	c.181 others(35): Show c.1815+895_1815+896insATATATATATATATATAT	INTS7	ENSG00000143493.13	transcript	ENST00000366994.8	protein_coding	13/19			chr1	TogoVar
INTS8_chr8_94818287_94886746	94848013	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp1 HG02738.hp1 others(3): Show HG00544.hp2 HG02027.hp1 HG02738.hp1 NA18956.hp1 NA19070.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0001c0001t0006 a0002c0010t0001 a0001c0001t0001 a0001c0001t0006 a0002c0010t0001	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0035 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0006g0014 a0002c0010t0001g0019	6	310	0.0194	18	c.126 others(37): Show c.1261-1436_1261-1435insTTTTTTTTTTTTTTTTTT	INTS8	ENSG00000164941.14	transcript	ENST00000523731.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
INTS9_chr8_28762661_28894969	28880225	G G	GCTCTCCC others(11): Show GCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18941.hp2 HG02486.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0169 a0001c0001t0001g0082 a0001c0001t0001g0169	2	358	0.0056	18	c.9+9 others(31): Show c.9+9631_9+9648dupGGAGAGGGAGAGGGAGAG	INTS9	ENSG00000104299.15	transcript	ENST00000521022.6	protein_coding	1/16			chr8	TogoVar
INTU_chr4_127627957_127731737	127640542	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0250 a0001c0002t0039g0250	1	358	0.0028	18	c.147 others(35): Show c.147-2947_147-2930dupTATATATATATATATATA	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127688939	C C	CCTTTCTT others(11): Show CCTTTCTTTCTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG02109.hp1 others(34): Show HG00735.hp1 HG01167.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG03688.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18989.hp2 NA19030.hp1 NA19043.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0007c0009 a0001c0001 a0001c0004 a0007c0009	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(13): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0062 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0004t0002 a0001c0004t0007 a0001c0004t0079 a0007c0009t0052	a0001c0001t0002g0034 a0001c0001t0002g0077 a0001c0001t0002g0119 others(31): Show a0001c0001t0002g0034 a0001c0001t0002g0077 a0001c0001t0002g0119 a0001c0001t0007g0153 a0001c0001t0010g0008 a0001c0001t0010g0124 a0001c0001t0010g0126 a0001c0001t0010g0129 a0001c0001t0010g0130 a0001c0001t0010g0137 a0001c0001t0018g0007 a0001c0001t0018g0125 a0001c0001t0023g0148 a0001c0001t0023g0149 a0001c0001t0024g0146 a0001c0001t0024g0147 a0001c0001t0026g0127 a0001c0001t0026g0131 a0001c0001t0027g0138 a0001c0001t0062g0063 a0001c0001t0066g0150 a0001c0001t0067g0136 a0001c0001t0068g0128 a0001c0004t0002g0234 a0001c0004t0002g0270 a0001c0004t0007g0018 a0001c0004t0007g0259 a0001c0004t0007g0262 a0001c0004t0007g0263 a0001c0004t0007g0264 a0001c0004t0007g0265 a0001c0004t0007g0266 a0001c0004t0079g0260 a0007c0009t0052g0269	37	358	0.1034	18	c.144 others(37): Show c.1449+1077_1449+1094dupCTTTCTTTCTTTTTCTTT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02523.hp1 NA18747.hp1 others(4): Show HG00423.hp1 HG02523.hp1 NA18747.hp1 NA18960.hp2 NA18968.hp2 NA19007.hp2 NA19077.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0021 a0002c0003t0031 a0002c0003t0003 a0002c0003t0021 a0002c0003t0031	a0002c0003t0003g0021 a0002c0003t0003g0290 a0002c0003t0003g0308 others(3): Show a0002c0003t0003g0021 a0002c0003t0003g0290 a0002c0003t0003g0308 a0002c0003t0003g0322 a0002c0003t0021g0286 a0002c0003t0031g0299	7	358	0.0196	18	c.144 others(37): Show c.1449+4097_1449+4114dupATATATATATATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127709711	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp2 NA21309.hp1 HG02257.hp1 HG03225.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120	3	358	0.0084	18	c.236 others(37): Show c.2369+1060_2369+1077dupCACACACACACACACACA	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INVS_chr9_100094243_100307175	100133764	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp1 others(9): Show HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00733.hp1 HG00741.hp1 HG01074.hp2 HG01167.hp2 HG01433.hp2 HG02523.hp1 HG03098.hp1 NA18964.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0025 a0003c0005t0022	a0001c0001t0010g0126 a0001c0002t0001g0114 a0001c0002t0001g0128 others(9): Show a0001c0001t0010g0126 a0001c0002t0001g0114 a0001c0002t0001g0128 a0001c0002t0002g0117 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0003g0115 a0001c0002t0008g0166 a0001c0002t0008g0168 a0001c0002t0025g0165 a0003c0005t0022g0002	12	182	0.0659	18	c.273 others(35): Show c.273+7239_273+7256dupCACACACACACACACACA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100154331	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	182	0.0055	18	c.273 others(37): Show c.273+27793_273+27810dupTTTTTTTTTTTTTTTTTT	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100185516	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18962.hp1 HG03927.hp2 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0158 a0001c0002t0002g0120 a0001c0002t0002g0158	2	182	0.0110	18	c.274 others(37): Show c.274-40521_274-40504dupATATATATATATATATAT	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100299555	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0021 a0003c0008t0021	a0003c0008t0021g0001 a0003c0008t0021g0001	1	182	0.0055	18	c.309 others(35): Show c.3092-995_3092-978dupCACACACACACACACACA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100301139	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0030 a0001c0001t0027g0030	1	182	0.0055	18	c.46 others(27): Show c.466_*467insTCACACACACACACACAC	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	17/17	467	INFO_REALIGN_3_PRIME	chr9	TogoVar
IP6K1_chr3_49719294_49791542	49780309	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp2 HG01167.hp1 others(11): Show HG00140.hp1 HG01074.hp2 HG01167.hp1 HG01169.hp1 HG01928.hp1 HG02027.hp1 HG02486.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG04184.hp2 NA19077.hp1 NA19085.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(11): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0135 a0001c0001t0002g0149 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0255 a0001c0001t0007g0147	14	260	0.0539	18	c.-12 others(37): Show c.-129+6027_-129+6044dupGTGTGTGTGTGTGTGTGT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	1/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49790111	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	260	0.0039	18	c.-38 others(29): Show c.-3887_-3886insGAGAGAGAGAGAGAGAGA	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding		3570		chr3	TogoVar
IP6K2_chr3_48683003_48722221	48687070	C C	CCTTTTTT others(11): Show CCTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp2 NA18955.hp1 others(1): Show HG02486.hp2 HG02615.hp2 NA18955.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0095	4	262	0.0153	18	c.12 others(29): Show c.1202_*1203insAAAAAAAAAAAAAAAAAG	IP6K2	ENSG00000068745.15	transcript	ENST00000328631.10	protein_coding		932		chr3	TogoVar
IPCEF1_chr6_154149496_154361803	154152390	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	264	0.0038	18	c.74 others(29): Show c.7437_*7438insCTCTCTTTCTTTCTTTCT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2105		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154313067	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp2 HG02630.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0244 a0001c0001t0023g0006 a0001c0001t0005g0244 a0001c0001t0023g0006	2	264	0.0076	18	c.-61 others(37): Show c.-61-23329_-61-23312dupTTTTTTTTTTTTTTTTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154331405	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02523.hp2 HG02738.hp1 others(1): Show HG00544.hp1 HG02523.hp2 HG02738.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0133 a0001c0001t0001g0181 a0001c0001t0002g0197 others(1): Show a0001c0001t0001g0133 a0001c0001t0001g0181 a0001c0001t0002g0197 a0001c0001t0006g0223	4	264	0.0152	18	c.-62 others(37): Show c.-62+25266_-62+25267insCTTTCTTTCTTTCTTTCT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPMK_chr10_58186517_58272894	58211901	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0263 a0001c0001t0005g0263	1	346	0.0029	18	c.546 others(35): Show c.546+4226_546+4243dupTTTTTTTTTTTTTTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	4/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58259671	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp1 HG02965.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0032 a0001c0001t0026 a0001c0001t0032	a0001c0001t0026g0142 a0001c0001t0032g0144 a0001c0001t0026g0142 a0001c0001t0032g0144	2	346	0.0058	18	c.190 others(35): Show c.190+7750_190+7751insTTTTTTTTTTTTTTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	1/5			chr10	TogoVar
IPO11_chr5_62407763_62633582	62435210	G G	GTATATAT others(11): Show GTATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01515.hp1 HG01517.hp1 others(3): Show HG00673.hp1 HG01515.hp1 HG01517.hp1 HG01993.hp2 HG03239.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0124 others(3): Show a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0153 a0001c0001t0002g0107	6	330	0.0182	18	c.-6- others(33): Show c.-6-2063_-6-2062insATATATATGTATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62470816	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19088.hp1 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0106 a0001c0001t0001g0109	2	330	0.0061	18	c.708 others(33): Show c.708+520_708+537dupTTTTTTTTTTTTTTTTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62514603	C C	CGGGAGAG others(11): Show CGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG01433.hp2 others(7): Show HG00639.hp1 HG01361.hp2 HG01433.hp2 HG02055.hp2 HG02145.hp2 HG02486.hp2 HG02895.hp1 HG04115.hp1 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0325	10	330	0.0303	18	c.178 others(35): Show c.1783-766_1783-749dupGGGAGAGGGAGAGGGAGA	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr5	TogoVar

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