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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
INPP5A_chr10_132532787_132788480	132596935	G G	GCATGTGT others(13): Show GCATGTGTGCGTGTGTGCGCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG01192.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0018 a0001c0001t0002 a0001c0005t0018	a0001c0001t0002g0042 a0001c0005t0018g0038 a0001c0001t0002g0042 a0001c0005t0018g0038	2	204	0.0098	20	c.76- others(37): Show c.76-10963_76-10962insGCACATGTGTGCGTGTGTGC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132596937	A A	ATGTGTGC others(13): Show ATGTGTGCGTGTGTGCATGCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	204	0.0049	20	c.76- others(37): Show c.76-10962_76-10961insTGCGTGTGTGCGTGTGTGCA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132660593	T T	TGGCTCTG others(13): Show TGGCTCTGGTGTCTGAGCAGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	204	0.0049	20	c.306 others(39): Show c.306+10113_306+10132dupCTGGTGTCTGAGCAGAGGCT	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37866406	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18939.hp1 NA18946.hp1 others(8): Show HG00280.hp1 NA18939.hp1 NA18946.hp1 NA18951.hp2 NA18957.hp2 NA18983.hp2 NA18998.hp1 NA19005.hp2 NA19056.hp2 NA19058.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0003t0003 a0002c0002t0003 a0002c0003t0003	a0002c0002t0003g0336 a0002c0002t0003g0338 a0002c0003t0003g0048 others(8): Show a0002c0002t0003g0336 a0002c0002t0003g0338 a0002c0003t0003g0048 a0002c0003t0003g0052 a0002c0003t0003g0054 a0002c0003t0003g0055 a0002c0003t0003g0056 a0002c0003t0003g0057 a0002c0003t0003g0059 a0002c0003t0003g0060 a0002c0003t0003g0293	11	346	0.0318	20	c.238 others(35): Show c.2386+33_2386+52dupTGTGTGTGTGTGTGTGTGTG	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	21/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37917308	T T	TTATATAC others(13): Show TTATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19063.hp2 HG02129.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0117 a0001c0005t0001g0284 a0001c0001t0001g0117 a0001c0005t0001g0284	2	346	0.0058	20	c.532 others(39): Show c.532+14604_532+14605insTATATATATATATGTATATA	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37917308	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02622.hp2 others(7): Show HG01070.hp2 HG01071.hp1 HG02622.hp2 HG04199.hp2 NA18967.hp1 NA18968.hp1 NA18993.hp2 NA19054.hp2 NA19062.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0005c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0148 a0001c0001t0001g0165 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0006g0172 a0001c0001t0006g0182 a0001c0001t0013g0120 a0001c0001t0013g0157 a0005c0007t0001g0140	10	346	0.0289	20	c.532 others(39): Show c.532+14585_532+14604dupTATATATATATATATATATA	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5D_chr2_233055342_233212903	233086119	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01256.hp1 others(9): Show HG00423.hp2 HG00558.hp1 HG01256.hp1 HG01515.hp2 HG01928.hp2 HG02451.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0006t0001 a0002c0002t0003 a0002c0002t0004 a0002c0007t0004	a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0133 others(9): Show a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0133 a0001c0001t0002g0303 a0001c0001t0005g0176 a0001c0001t0005g0179 a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0006t0001g0145 a0002c0002t0003g0257 a0002c0002t0004g0061 a0002c0007t0004g0016	12	310	0.0387	20	c.198 others(37): Show c.198+6772_198+6791dupTTTCTTTCTTTCTTTCTTTC	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233098936	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp2 HG01106.hp1 others(18): Show HG00609.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG02523.hp2 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03453.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18941.hp2 NA18951.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0021 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0021t0001 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0003g0232 others(18): Show a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0003g0232 a0001c0001t0009g0149 a0001c0001t0012g0027 a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0002g0217 a0001c0004t0001g0008 a0001c0004t0001g0015 a0001c0004t0002g0271 a0001c0004t0002g0299 a0001c0005t0001g0089 a0001c0005t0001g0143 a0001c0005t0002g0150 a0001c0021t0001g0129 a0002c0002t0003g0225 a0002c0002t0003g0236 a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0146	21	310	0.0677	20	c.198 others(39): Show c.198+19550_198+19569dupATTTATTTATTTATTTATTT	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233116225	G G	GTAGATAG others(13): Show GTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03041.hp2 HG04199.hp2 HG00140.hp2 HG03041.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0006 a0001c0003t0002 a0001c0006t0002 a0001c0001t0006 a0001c0003t0002 a0001c0006t0002	a0001c0001t0006g0167 a0001c0003t0002g0292 a0001c0006t0002g0229 a0001c0001t0006g0167 a0001c0003t0002g0292 a0001c0006t0002g0229	3	310	0.0097	20	c.199 others(37): Show c.199-5871_199-5852dupGATAGATAGATAGATAGATA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233116248	G G	GATAGATA others(13): Show GATAGATAGATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02486.hp1 NA18522.hp2 others(1): Show HG00673.hp1 HG02486.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0002 a0001c0005t0007 a0002c0002t0003 a0001c0005t0002 a0001c0005t0007 a0002c0002t0003	a0001c0005t0002g0208 a0001c0005t0007g0199 a0002c0002t0003g0197 others(1): Show a0001c0005t0002g0208 a0001c0005t0007g0199 a0002c0002t0003g0197 a0002c0002t0003g0288	4	310	0.0129	20	c.199 others(37): Show c.199-5852_199-5851insGATAGATATAGATATAGATA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233121509	C C	CTTTTATT others(13): Show CTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp2 HG02723.hp1 HG02257.hp1 HG02717.hp2 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0006 a0001c0005t0007 a0002c0002t0003 a0001c0001t0006 a0001c0005t0007 a0002c0002t0003	a0001c0001t0006g0309 a0001c0005t0007g0186 a0002c0002t0003g0202 a0001c0001t0006g0309 a0001c0005t0007g0186 a0002c0002t0003g0202	3	310	0.0097	20	c.199 others(35): Show c.199-584_199-565dupTATTTTATTTTATTTTATTT	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233148294	A A	ATGGATGA others(13): Show ATGGATGATCTGTCAATACAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(178): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp2 NA18964.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp2 NA19066.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0005 others(11): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0024 a0002c0002 a0002c0014 a0002c0022 a0002c0025 a0003c0011 a0004c0012 a0005c0026 a0006c0023 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0010 a0001c0005t0001 a0001c0013t0013 a0001c0024t0017 a0002c0002t0003 a0002c0002t0004 a0002c0002t0020 a0002c0014t0003 a0002c0014t0004 a0002c0022t0003 a0002c0025t0003 a0003c0011t0001 a0004c0012t0001 a0004c0012t0002 a0005c0026t0005 a0006c0023t0001 a0007c0016t0002	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0014 others(178): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0194 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0003g0190 a0001c0001t0003g0232 a0001c0001t0003g0270 a0001c0001t0004g0104 a0001c0001t0005g0024 a0001c0001t0005g0168 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0179 a0001c0001t0005g0184 a0001c0001t0005g0189 a0001c0001t0005g0191 a0001c0001t0006g0167 a0001c0001t0006g0196 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0252 a0001c0001t0006g0309 a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0001t0007g0169 a0001c0001t0009g0149 a0001c0001t0009g0182 a0001c0001t0009g0245 a0001c0001t0009g0251 a0001c0001t0010g0013 a0001c0001t0011g0098 a0001c0001t0011g0141 a0001c0001t0012g0027 a0001c0001t0014g0140 a0001c0001t0015g0222 a0001c0003t0001g0006 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0032 a0001c0003t0001g0050 a0001c0003t0001g0085 a0001c0003t0001g0091 a0001c0003t0001g0097 a0001c0003t0001g0099 a0001c0003t0001g0108 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0193 a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0206 a0001c0003t0002g0215 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0002g0277 a0001c0003t0002g0292 a0001c0003t0003g0250 a0001c0003t0003g0287 a0001c0003t0008g0286 a0001c0003t0010g0106 a0001c0003t0010g0137 a0001c0005t0001g0033 a0001c0013t0013g0259 a0001c0013t0013g0306 a0001c0024t0017g0244 a0002c0002t0003g0160 a0002c0002t0003g0174 a0002c0002t0003g0187 a0002c0002t0003g0197 a0002c0002t0003g0202 a0002c0002t0003g0209 a0002c0002t0003g0225 a0002c0002t0003g0228 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0268 a0002c0002t0003g0275 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0003g0285 a0002c0002t0003g0291 a0002c0002t0003g0294 a0002c0002t0003g0297 a0002c0002t0003g0298 a0002c0002t0003g0302 a0002c0002t0003g0304 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0034 a0002c0002t0004g0036 a0002c0002t0004g0045 a0002c0002t0004g0046 a0002c0002t0004g0055 a0002c0002t0004g0061 a0002c0002t0004g0067 a0002c0002t0004g0072 a0002c0002t0004g0078 a0002c0002t0004g0080 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0113 a0002c0002t0004g0132 a0002c0002t0004g0134 a0002c0002t0004g0135 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0002t0020g0274 a0002c0014t0003g0264 a0002c0014t0004g0030 a0002c0022t0003g0282 a0002c0025t0003g0185 a0003c0011t0001g0083 a0003c0011t0001g0093 a0004c0012t0001g0064 a0004c0012t0002g0263 a0005c0026t0005g0195 a0006c0023t0001g0070 a0007c0016t0002g0284	181	310	0.5839	20	c.103 others(37): Show c.1030+709_1030+710insTGTCAATACAGTGGATGATC	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18944.hp1 HG03491.hp1 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0002 a0001c0003t0003 a0002c0002t0002	a0001c0003t0003g0311 a0002c0002t0002g0270 a0001c0003t0003g0311 a0002c0002t0002g0270	2	328	0.0061	20	c.315 others(37): Show c.315+3531_315+3532insTTTTTTTTTTTTTTTTTTTT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5F_chr10_119721050_119834147	119785535	C C	CGAGAGAG others(13): Show CGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18993.hp2 NA19064.hp1 NA18960.hp2 NA18993.hp2 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0263 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0263 a0002c0002t0002g0267 a0002c0002t0002g0268	3	328	0.0092	20	c.315 others(37): Show c.315+3789_315+3808dupGAGAGAGAGAGAGAGAGAGA	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5J_chr22_31117966_31139697	31121049	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG02257.hp2 others(5): Show HG01099.hp1 HG01192.hp1 HG02257.hp2 HG02976.hp1 HG03130.hp1 HG03453.hp1 HG03831.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0003 a0001c0004 a0007c0010 a0001c0003 a0001c0004 a0007c0010	a0001c0003t0001 a0001c0004t0001 a0007c0010t0001 a0001c0003t0001 a0001c0004t0001 a0007c0010t0001	a0001c0003t0001g0004 a0001c0003t0001g0101 a0001c0004t0001g0013 others(1): Show a0001c0003t0001g0004 a0001c0003t0001g0101 a0001c0004t0001g0013 a0007c0010t0001g0038	8	422	0.0190	20	c.-19 others(31): Show c.-1966_-1965insTTTTTTTTTTTTTTTTTTTT	INPP5J	ENSG00000185133.14	transcript	ENST00000331075.10	protein_coding		1916		chr22	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	270	0.0037	20	c.-19 others(31): Show c.-1906_-1905insTCTTTCTTTCTTTCTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSC_chr11_15109923_15252208	15116805	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02145.hp1 HG02071.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0155 a0001c0002t0005g0158 a0001c0002t0001g0155 a0001c0002t0005g0158	2	270	0.0074	20	c.-46 others(37): Show c.-46+1828_-46+1847dupTTCTTTCTTTCTTTCTTTCT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15116847	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	270	0.0037	20	c.-46 others(37): Show c.-46+1847_-46+1848insTTCTTTCTTTCTTTCTCTCT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15116905	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0242 a0001c0002t0003g0242	1	270	0.0037	20	c.-46 others(37): Show c.-46+1905_-46+1906insTTCCTTCCTTCCTTCCTTCC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15116917	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18969.hp1 NA18998.hp2 HG02148.hp2 NA18969.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0239 a0001c0001t0002g0190 a0001c0001t0004g0168 a0001c0001t0001g0239 a0001c0001t0002g0190 a0001c0001t0004g0168	3	270	0.0111	20	c.-46 others(37): Show c.-46+1917_-46+1918insTTCCTTCCTTCCTTCCTTCC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15116921	C C	CTCCCTCC others(13): Show CTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	270	0.0037	20	c.-46 others(37): Show c.-46+1921_-46+1922insCTCCCTCCCTCCTTCCTTCC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15116921	C C	CTCCCTCC others(13): Show CTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0014	1	270	0.0037	20	c.-46 others(37): Show c.-46+1921_-46+1922insCTCCCTCCTTCCTTCCTTCC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15116921	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	270	0.0037	20	c.-46 others(37): Show c.-46+1925_-46+1944dupCTTCCTTCCTTCCTTCCTTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15134827	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp1 HG03486.hp1 others(1): Show HG02647.hp2 HG03209.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0023	a0001c0001t0002g0008 a0001c0001t0003g0023 a0001c0001t0005g0016 others(1): Show a0001c0001t0002g0008 a0001c0001t0003g0023 a0001c0001t0005g0016 a0001c0002t0023g0009	4	270	0.0148	20	c.-45 others(39): Show c.-45-14291_-45-14272dupATTTATTTATTTATTTATTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15247733	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02451.hp2 HG02647.hp2 others(3): Show HG00735.hp2 HG02451.hp2 HG02647.hp2 HG04204.hp1 NA18969.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0023 a0001c0003t0006	a0001c0001t0003g0261 a0001c0001t0004g0108 a0001c0001t0004g0168 others(3): Show a0001c0001t0003g0261 a0001c0001t0004g0108 a0001c0001t0004g0168 a0001c0001t0006g0134 a0001c0002t0023g0009 a0001c0003t0006g0222	6	270	0.0222	20	c.16 others(31): Show c.1693_*1694insTATATATATATATATATATA	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		526		chr11	TogoVar
INSM2_chr14_35529164_35542054	35541040	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01069.hp2 HG02083.hp1 others(6): Show HG00544.hp2 HG01069.hp2 HG02083.hp1 HG02451.hp1 HG03041.hp2 NA18944.hp2 NA18965.hp2 NA18994.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0005t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0005t0001g0000	9	402	0.0224	20	c.50 others(31): Show c.5087_*5088insTTTTTTTTTTTTTTTTTTTT	INSM2	ENSG00000168348.4	transcript	ENST00000307169.4	protein_coding		3987		chr14	TogoVar
INSRR_chr1_156835063_156864117	156855176	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(57): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02109.hp2 HG02145.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02735.hp2 HG02738.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18983.hp1 NA18990.hp2 NA18993.hp1 NA18999.hp1 NA19002.hp1 NA19009.hp2 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19067.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA20300.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0012	a0001c0001 a0001c0010 a0001c0015 others(7): Show a0001c0001 a0001c0010 a0001c0015 a0001c0027 a0002c0002 a0002c0003 a0002c0024 a0002c0025 a0008c0019 a0012c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0024 a0001c0010t0001 a0001c0015t0001 a0001c0027t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0003t0001 a0002c0003t0003 a0002c0024t0004 a0002c0025t0013 a0008c0019t0001 a0012c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0029 others(47): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0274 a0001c0001t0002g0015 a0001c0001t0002g0098 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0206 a0001c0001t0002g0276 a0001c0001t0003g0145 a0001c0001t0005g0179 a0001c0001t0005g0258 a0001c0001t0005g0263 a0001c0001t0006g0288 a0001c0001t0011g0153 a0001c0001t0024g0294 a0001c0010t0001g0049 a0001c0015t0001g0146 a0001c0027t0001g0205 a0002c0002t0001g0203 a0002c0002t0002g0268 a0002c0002t0003g0009 a0002c0002t0003g0141 a0002c0002t0003g0185 a0002c0002t0004g0142 a0002c0002t0004g0270 a0002c0003t0001g0224 a0002c0003t0001g0233 a0002c0003t0003g0234 a0002c0024t0004g0076 a0002c0025t0013g0299 a0008c0019t0001g0182 a0012c0013t0001g0052	60	356	0.1685	20	c.86- others(33): Show c.86-893_86-874dupGATAGATAGATAGATAGATA	INSRR	ENSG00000027644.5	transcript	ENST00000368195.4	protein_coding	1/21			chr1	TogoVar
INSR_chr19_7107265_7299414	7136828	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp2 HG03486.hp1 HG01884.hp2 HG02895.hp2 HG03486.hp1	a0001 a0001	a0001c0012 a0001c0028 a0001c0012 a0001c0028	a0001c0012t0076 a0001c0012t0105 a0001c0028t0164 a0001c0012t0076 a0001c0012t0105 a0001c0028t0164	a0001c0012t0076g0087 a0001c0012t0105g0184 a0001c0028t0164g0294 a0001c0012t0076g0087 a0001c0012t0105g0184 a0001c0028t0164g0294	3	300	0.0100	20	c.268 others(39): Show c.2683-4531_2683-4512dupATATATATATATATATATAT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	13/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7149936	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03486.hp2 HG02109.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0027 a0001c0003 a0001c0027	a0001c0003t0073 a0001c0027t0053 a0001c0003t0073 a0001c0027t0053	a0001c0003t0073g0083 a0001c0027t0053g0044 a0001c0003t0073g0083 a0001c0027t0053g0044	2	300	0.0067	20	c.226 others(37): Show c.2267+541_2267+560dupCTTCCTTCCTTCCTTCCTTC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	11/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7184640	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG02886.hp2 HG01106.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0016 a0001c0014t0034 a0001c0005t0016 a0001c0014t0034	a0001c0005t0016g0120 a0001c0014t0034g0169 a0001c0005t0016g0120 a0001c0014t0034g0169	2	300	0.0067	20	c.653 others(32): Show c.653-23_653-4dupTCTCTCTCTCTCTCTCTCTC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7192249	G G	GAAGAAAA others(13): Show GAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0159 a0001c0001t0159	a0001c0001t0159g0289 a0001c0001t0159g0289	1	300	0.0033	20	c.653 others(37): Show c.653-7632_653-7613dupTTCTTTTCTTTTCTTTTCTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7197514	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01978.hp1 HG02559.hp2 others(2): Show HG00597.hp2 HG01978.hp1 HG02559.hp2 NA18948.hp1 NA18968.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0018 a0001c0003 a0001c0004 a0001c0018	a0001c0003t0034 a0001c0003t0080 a0001c0004t0024 others(2): Show a0001c0003t0034 a0001c0003t0080 a0001c0004t0024 a0001c0004t0145 a0001c0018t0168	a0001c0003t0034g0214 a0001c0003t0080g0091 a0001c0004t0024g0027 others(2): Show a0001c0003t0034g0214 a0001c0003t0080g0091 a0001c0004t0024g0027 a0001c0004t0145g0128 a0001c0018t0168g0298	5	300	0.0167	20	c.653 others(39): Show c.653-12878_653-12877insACACACACACACACACACAC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7207901	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp2 HG01346.hp2 others(10): Show HG00597.hp2 HG00738.hp2 HG01346.hp2 HG01952.hp2 HG01978.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG04204.hp1 NA18942.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0001c0019 a0001c0030	a0001c0001t0002 a0001c0001t0007 a0001c0001t0116 others(8): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0116 a0001c0002t0001 a0001c0002t0004 a0001c0004t0024 a0001c0004t0126 a0001c0004t0145 a0001c0013t0017 a0001c0019t0001 a0001c0030t0155	a0001c0001t0002g0040 a0001c0001t0007g0155 a0001c0001t0116g0198 others(10): Show a0001c0001t0002g0040 a0001c0001t0007g0155 a0001c0001t0116g0198 a0001c0002t0001g0172 a0001c0002t0001g0181 a0001c0002t0001g0223 a0001c0002t0004g0261 a0001c0004t0024g0027 a0001c0004t0126g0211 a0001c0004t0145g0128 a0001c0013t0017g0279 a0001c0019t0001g0177 a0001c0030t0155g0285	13	300	0.0433	20	c.653 others(39): Show c.653-23284_653-23265dupCCTTCCTTCCTTCCTTCCTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7215556	G G	GTATTTAT others(13): Show GTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03225.hp1 HG03486.hp1 HG02280.hp1 HG03225.hp1 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0012 a0001c0030 a0004c0057 a0001c0012 a0001c0030 a0004c0057	a0001c0012t0076 a0001c0030t0155 a0004c0057t0004 a0001c0012t0076 a0001c0030t0155 a0004c0057t0004	a0001c0012t0076g0087 a0001c0030t0155g0285 a0004c0057t0004g0100 a0001c0012t0076g0087 a0001c0030t0155g0285 a0004c0057t0004g0100	3	300	0.0100	20	c.653 others(39): Show c.653-30939_653-30920dupAATAAATAAATAAATAAATA	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7219475	G G	GGGAGGGA others(13): Show GGGAGGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(97): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG02040.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18955.hp2 NA18956.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19081.hp1 NA19084.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0017 a0001c0018 a0001c0021 a0001c0023 a0001c0024 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0043 a0001c0055 a0001c0056 a0001c0058 a0001c0059 a0008c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(81): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0031 a0001c0001t0037 a0001c0001t0038 a0001c0001t0045 a0001c0001t0081 a0001c0001t0086 a0001c0001t0091 a0001c0001t0100 a0001c0001t0116 a0001c0001t0117 a0001c0001t0148 a0001c0001t0159 a0001c0002t0001 a0001c0002t0009 a0001c0002t0016 a0001c0002t0021 a0001c0002t0026 a0001c0002t0028 a0001c0002t0036 a0001c0002t0039 a0001c0002t0049 a0001c0002t0079 a0001c0002t0087 a0001c0002t0143 a0001c0002t0170 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0012 a0001c0003t0017 a0001c0003t0025 a0001c0003t0061 a0001c0003t0066 a0001c0003t0080 a0001c0003t0101 a0001c0003t0132 a0001c0003t0150 a0001c0003t0161 a0001c0004t0001 a0001c0004t0006 a0001c0004t0068 a0001c0005t0016 a0001c0005t0121 a0001c0006t0075 a0001c0008t0027 a0001c0009t0004 a0001c0009t0012 a0001c0010t0008 a0001c0010t0030 a0001c0010t0044 a0001c0010t0095 a0001c0010t0099 a0001c0011t0001 a0001c0011t0008 a0001c0011t0102 a0001c0011t0147 a0001c0012t0141 a0001c0017t0001 a0001c0018t0072 a0001c0021t0033 a0001c0023t0062 a0001c0024t0023 a0001c0027t0053 a0001c0028t0082 a0001c0028t0164 a0001c0029t0004 a0001c0029t0165 a0001c0030t0089 a0001c0043t0009 a0001c0055t0002 a0001c0056t0021 a0001c0058t0123 a0001c0059t0013 a0008c0032t0106	a0001c0001t0001g0161 a0001c0001t0001g0228 a0001c0001t0001g0233 others(97): Show a0001c0001t0001g0161 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0002g0008 a0001c0001t0002g0047 a0001c0001t0004g0106 a0001c0001t0004g0215 a0001c0001t0007g0155 a0001c0001t0007g0175 a0001c0001t0007g0229 a0001c0001t0008g0134 a0001c0001t0009g0196 a0001c0001t0009g0243 a0001c0001t0013g0232 a0001c0001t0014g0188 a0001c0001t0015g0124 a0001c0001t0020g0057 a0001c0001t0020g0076 a0001c0001t0031g0244 a0001c0001t0037g0166 a0001c0001t0038g0182 a0001c0001t0038g0262 a0001c0001t0045g0048 a0001c0001t0081g0165 a0001c0001t0086g0226 a0001c0001t0091g0143 a0001c0001t0100g0126 a0001c0001t0116g0198 a0001c0001t0117g0260 a0001c0001t0148g0149 a0001c0001t0159g0289 a0001c0002t0001g0213 a0001c0002t0009g0101 a0001c0002t0016g0105 a0001c0002t0021g0036 a0001c0002t0026g0081 a0001c0002t0028g0240 a0001c0002t0036g0253 a0001c0002t0039g0247 a0001c0002t0039g0252 a0001c0002t0049g0034 a0001c0002t0079g0089 a0001c0002t0087g0268 a0001c0002t0143g0251 a0001c0002t0170g0295 a0001c0003t0001g0230 a0001c0003t0003g0183 a0001c0003t0003g0200 a0001c0003t0003g0222 a0001c0003t0005g0195 a0001c0003t0005g0236 a0001c0003t0005g0274 a0001c0003t0012g0009 a0001c0003t0017g0130 a0001c0003t0025g0004 a0001c0003t0061g0052 a0001c0003t0066g0050 a0001c0003t0080g0091 a0001c0003t0101g0254 a0001c0003t0132g0207 a0001c0003t0150g0131 a0001c0003t0161g0292 a0001c0004t0001g0150 a0001c0004t0006g0053 a0001c0004t0068g0073 a0001c0005t0016g0120 a0001c0005t0121g0097 a0001c0006t0075g0084 a0001c0008t0027g0085 a0001c0008t0027g0086 a0001c0009t0004g0191 a0001c0009t0012g0042 a0001c0010t0008g0257 a0001c0010t0030g0263 a0001c0010t0044g0063 a0001c0010t0095g0209 a0001c0010t0099g0284 a0001c0011t0001g0216 a0001c0011t0001g0217 a0001c0011t0008g0133 a0001c0011t0102g0099 a0001c0011t0147g0152 a0001c0012t0141g0096 a0001c0017t0001g0139 a0001c0018t0072g0079 a0001c0021t0033g0121 a0001c0023t0062g0019 a0001c0024t0023g0032 a0001c0027t0053g0044 a0001c0028t0082g0115 a0001c0028t0164g0294 a0001c0029t0004g0185 a0001c0029t0165g0297 a0001c0030t0089g0112 a0001c0043t0009g0276 a0001c0055t0002g0030 a0001c0056t0021g0077 a0001c0058t0123g0114 a0001c0059t0013g0187 a0008c0032t0106g0160	100	300	0.3333	20	c.653 others(39): Show c.653-34839_653-34838insTTCCTTCCCTCCCTCCCTCC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7229316	G G	GGATGGAT others(13): Show GGATGGATGGATGGATGGATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02572.hp1 others(2): Show HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0024 a0001c0033 others(1): Show a0001c0005 a0001c0024 a0001c0033 a0001c0042	a0001c0005t0019 a0001c0024t0119 a0001c0033t0088 others(1): Show a0001c0005t0019 a0001c0024t0119 a0001c0033t0088 a0001c0042t0124	a0001c0005t0019g0033 a0001c0005t0019g0045 a0001c0024t0119g0265 others(2): Show a0001c0005t0019g0033 a0001c0005t0019g0045 a0001c0024t0119g0265 a0001c0033t0088g0098 a0001c0042t0124g0103	5	300	0.0167	20	c.652 others(39): Show c.652+38028_652+38029insTATCCATCCATCCATCCATC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7229320	G G	GGATGGAT others(13): Show GGATGGATGGATGGATGGATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0004 a0001c0029t0004	a0001c0029t0004g0185 a0001c0029t0004g0185	1	300	0.0033	20	c.652 others(39): Show c.652+38024_652+38025insTATCCATCCATCCATCCATC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7229324	G G	GGATGGAT others(13): Show GGATGGATGGATGGATGGATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19079.hp2 HG03041.hp2 NA19079.hp2	a0001 a0001	a0001c0027 a0001c0030 a0001c0027 a0001c0030	a0001c0027t0151 a0001c0030t0089 a0001c0027t0151 a0001c0030t0089	a0001c0027t0151g0224 a0001c0030t0089g0112 a0001c0027t0151g0224 a0001c0030t0089g0112	2	300	0.0067	20	c.652 others(39): Show c.652+38020_652+38021insTATCCATCCATCCATCCATC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7259104	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0119 a0001c0024t0119	a0001c0024t0119g0265 a0001c0024t0119g0265	1	300	0.0033	20	c.652 others(37): Show c.652+8240_652+8241insAGAAGGAAGGAAGGAAGGAA	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSYN1_chr15_73730458_73758351	73745810	A A	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01256.hp2 others(16): Show HG00280.hp2 HG01167.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01891.hp1 HG02280.hp1 HG03130.hp2 HG03225.hp2 HG03834.hp1 NA18949.hp2 NA18961.hp1 NA18990.hp2 NA19012.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0036 others(4): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0036 a0001c0001t0037 a0001c0001t0046 a0001c0001t0072 a0001c0001t0074	a0001c0001t0004g0012 a0001c0001t0004g0090 a0001c0001t0012g0026 others(7): Show a0001c0001t0004g0012 a0001c0001t0004g0090 a0001c0001t0012g0026 a0001c0001t0012g0046 a0001c0001t0012g0113 a0001c0001t0036g0045 a0001c0001t0037g0052 a0001c0001t0046g0064 a0001c0001t0072g0140 a0001c0001t0074g0141	19	406	0.0468	20	c.156 others(37): Show c.156+5145_156+5164dupGTTTTGTTTTGTTTTGTTTT	INSYN1	ENSG00000205363.7	transcript	ENST00000569673.3	protein_coding	2/2			chr15	TogoVar
INSYN2B_chr5_169856303_169985495	169945747	G G	GGGTCTCT others(13): Show GGGTCTCTCGGCCCCCAAGGC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	318	0.0031	20	c.-91 others(41): Show c.-919+34529_-919+34530insGCCTTGGGGGCCGAGAGACC	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3			chr5	TogoVar
INSYN2B_chr5_169856303_169985495	169961978	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18959.hp1 NA18994.hp2 HG03540.hp1 NA18959.hp1 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0143 a0001c0001t0002g0203 a0002c0002t0005g0301 a0001c0001t0002g0143 a0001c0001t0002g0203 a0002c0002t0005g0301	3	318	0.0094	20	c.-91 others(41): Show c.-919+18298_-919+18299insTTTTTTTTTTTTTTTTTTTT	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3			chr5	TogoVar
INTS12_chr4_105677627_105713689	105700706	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02071.hp2 others(3): Show HG01516.hp1 HG01517.hp2 HG02071.hp2 HG03834.hp1 NA18987.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0182 a0001c0001t0001g0183 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192	6	312	0.0192	20	c.-9- others(33): Show c.-9-712_-9-693dupGTGTGTGTGTGTGTGTGTGT	INTS12	ENSG00000138785.16	transcript	ENST00000340139.10	protein_coding	2/7			chr4	TogoVar
INTS14_chr15_65573757_65616131	65613480	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 NA19240.hp2 HG02647.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0204 a0001c0001t0007g0110 a0001c0001t0002g0204 a0001c0001t0007g0110	2	322	0.0062	20	c.-24 others(31): Show c.-2465_-2446dupCACACACACACACACACACA	INTS14	ENSG00000138614.16	transcript	ENST00000313182.7	protein_coding		2350		chr15	TogoVar
INTS15_chr7_6585021_6613726	6598735	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	394	0.0025	20	c.581 others(37): Show c.581-1062_581-1043dupGTGTGTGTGTGTGTGTGTGT	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
INTS1_chr7_1465277_1509389	1503840	T T	TCCCCAAA others(13): Show TCCCCAAAGACCCCCAAAGAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20129.hp1 HG02622.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0218 a0001c0001t0001g0219	2	316	0.0063	20	c.58+ others(31): Show c.58+43_58+62dupGTCTTTGGGGGTCTTTGGGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	2/47			chr7	TogoVar
INTS1_chr7_1465277_1509389	1506697	C C	CCCTCCTC others(13): Show CCCTCCTCCCCTCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02809.hp2 HG03453.hp2 others(1): Show HG01978.hp2 HG02809.hp2 HG03453.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0001 a0001c0031t0001 a0001c0001t0001 a0001c0031t0001	a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0194 a0001c0031t0001g0123	4	316	0.0127	20	c.-24 others(31): Show c.-2417_-2416insAGGGGGAGGAGGGGAGGAGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		2309		chr7	TogoVar
INTS2_chr17_61860367_61932982	61922511	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02083.hp1 NA18966.hp1 others(1): Show HG01993.hp1 HG02083.hp1 NA18966.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 others(1): Show a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0006g0107	4	366	0.0109	20	c.433 others(35): Show c.433-704_433-685dupATATATATATATATATATAT	INTS2	ENSG00000108506.14	transcript	ENST00000251334.7	protein_coding	3/24			chr17	TogoVar
INTS3_chr1_153723050_153779808	153725148	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	349	0.0029	20	c.-34 others(31): Show c.-3487_-3486insTCTCTCTCTCTCTCTCTCTC	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding		2901		chr1	TogoVar
INTS3_chr1_153723050_153779808	153725170	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	349	0.0029	20	c.-34 others(31): Show c.-3465_-3464insTCTCTCTCTCTCTCTATATA	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding		2879		chr1	TogoVar

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