Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HNF1A_chr12_120973543_121007512	120990626	GAGGAAAG others(20): Show GAGGAAAGATAGGAAAGGGAGGAAAGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp2 HG01123.hp2 others(22): Show HG00140.hp1 HG01071.hp2 HG01123.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp2 HG02683.hp1 HG02723.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 NA20129.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0004 a0004c0024 others(1): Show a0001c0001 a0001c0004 a0004c0024 a0006c0009	a0001c0001t0002 a0001c0004t0004 a0001c0004t0007 others(2): Show a0001c0001t0002 a0001c0004t0004 a0001c0004t0007 a0004c0024t0004 a0006c0009t0004	a0001c0001t0002g0198 a0001c0004t0004g0017 a0001c0004t0004g0018 others(19): Show a0001c0001t0002g0198 a0001c0004t0004g0017 a0001c0004t0004g0018 a0001c0004t0004g0019 a0001c0004t0004g0056 a0001c0004t0004g0057 a0001c0004t0004g0060 a0001c0004t0004g0074 a0001c0004t0004g0075 a0001c0004t0004g0076 a0001c0004t0004g0079 a0001c0004t0004g0080 a0001c0004t0004g0081 a0001c0004t0004g0085 a0001c0004t0004g0086 a0001c0004t0004g0087 a0001c0004t0004g0088 a0001c0004t0007g0055 a0004c0024t0004g0078 a0006c0009t0004g0077 a0006c0009t0004g0082 a0006c0009t0004g0084	25	399	0.0627	-27	c.526 others(44): Show c.526+1602_526+1628delATAGGAAAGGGAGGAAAGGTAGGAAAG		HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
HNF1A_chr12_120973543_121007512	120997538	CCTGCAGC others(20): Show CCTGCAGCCCGTCCAGTTCTCCCAGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG01074.hp2 HG00639.hp1 HG01074.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0021 a0007c0016t0002g0021	2	408	0.0049	-27	c.138 others(36): Show c.1380_1406delGCCCGTCCAGTTCTCCCAGCCGCTGCA	p.Gln others(13): Show p.Gln460_Leu468del	HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	7/10	1606/3442	1380/1896	460/631		INFO_REALIGN_3_PRIME	chr12	TogoVar
HOMER1_chr5_79367636_79519134	79379244	ATATATAT others(20): Show ATATATATCTATTATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 HG02559.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0006 a0001c0001t0012g0003 a0001c0001t0006g0006 a0001c0001t0012g0003	2	274	0.0073	-27	c.877 others(44): Show c.877-3074_877-3048delATATATAATATATATAATAGATATATA		HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	8/8						chr5	TogoVar
HOXA3_chr7_27102010_27157583	27151210	ACCTCGGA others(20): Show ACCTCGGACTCTTTTCTTGTCGCTGTCC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	324	0.0031	-27	c.-49 others(46): Show c.-494+1051_-494+1077delGGACAGCGACAAGAAAAGAGTCCGAG G		HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	1/5						chr7	TogoVar
HOXA6_chr7_27140396_27152774	27151210	ACCTCGGA others(20): Show ACCTCGGACTCTTTTCTTGTCGCTGTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-27	c.-34 others(38): Show c.-3488_-3462delGGACAGCGACAAGAAAAGAGTCCGAGG		HOXA6	ENSG00000106006.6	transcript	ENST00000222728.3	protein_coding					3437		chr7	TogoVar
HOXC13_chr12_53933831_53951544	53942154	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	13	0.0769	-27	c.736 others(44): Show c.736+2523_736+2549delTTTTTTTTTTTTTTTTTTTTTTTTTTT		HOXC13	ENSG00000123364.5	transcript	ENST00000243056.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr12	TogoVar
HRK_chr12_116851144_116886441	116854846	AAACACAC others(20): Show AAACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	363	0.0028	-27	c.66 others(38): Show c.6650_*6676delGTGTGTGTGTGTGTGTGTGTGTGTGTT		HRK	ENSG00000135116.9	transcript	ENST00000257572.5	protein_coding					1297		chr12	TogoVar
HS6ST2_chrX_132621015_132963629	132637809	TTATTTTA others(20): Show TTATTTTATATATATAATATTATATATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	96	0.0104	-27	c.106 others(46): Show c.1068-8743_1068-8717delTATATATAATATTATATATATAAAAT A		HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4						chrX	TogoVar
HS6ST2_chrX_132621015_132963629	132637850	AATATATA others(20): Show AATATATATATAATATATTATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	174	0.0057	-27	c.106 others(46): Show c.1068-8784_1068-8758delATTATATATAATATATTATATATATA T		HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4						chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96118670	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	95	0.0105	-27	c.707 others(46): Show c.707+27103_707+27129delATATATATATATATATATTTTTTTTT T		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254433	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03130.hp2 HG01074.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0116 a0001c0001t0011g0039 a0001c0001t0006g0116 a0001c0001t0011g0039	2	116	0.0172	-27	c.707 others(48): Show c.707+162866_707+162892delAAAAAAAAAAAAAAATATATATAT ATA		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254435	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	115	0.0087	-27	c.707 others(48): Show c.707+162868_707+162894delAAAAAAAAAAAAATATATATATAT ATA		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HSD17B4_chr5_119447497_119547332	119523027	GTGGTGTT others(20): Show GTGGTGTTTATTTTGAGACTTACTGGAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00558.hp2 others(97): Show HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01243.hp2 HG01255.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03490.hp1 HG03688.hp2 HG03710.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp2 NA19001.hp2 NA19006.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19072.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0001c0013 a0003c0003 others(2): Show a0001c0001 a0001c0013 a0003c0003 a0005c0005 a0008c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0013t0001 a0003c0003t0006 a0003c0003t0010 a0005c0005t0001 a0005c0005t0008 a0008c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(94): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0193 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0006g0188 a0001c0001t0009g0300 a0001c0013t0001g0257 a0001c0013t0001g0275 a0003c0003t0006g0153 a0003c0003t0010g0196 a0005c0005t0001g0238 a0005c0005t0001g0241 a0005c0005t0001g0258 a0005c0005t0001g0259 a0005c0005t0001g0260 a0005c0005t0001g0262 a0005c0005t0001g0282 a0005c0005t0001g0284 a0005c0005t0001g0307 a0005c0005t0008g0236 a0008c0010t0001g0271	100	378	0.2646	-27	c.150 others(46): Show c.1504-2187_1504-2161delGGTGTTTATTTTGAGACTTACTGGAA T		HSD17B4	ENSG00000133835.18	transcript	ENST00000510025.7	protein_coding	17/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPA4_chr5_133047013_133111449	133109797	ATAAAAAA others(20): Show ATAAAAAAAAAAAATAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01993.hp2 HG03710.hp2 others(1): Show HG01255.hp2 HG01993.hp2 HG03710.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0039 a0001c0002t0002g0045 others(1): Show a0001c0002t0002g0023 a0001c0002t0002g0039 a0001c0002t0002g0045 a0001c0002t0002g0073	4	342	0.0117	-27	c.53 others(38): Show c.5362_*5388delTAAAAAAAAAAAATAAAAAAAAAAAAG		HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding					3349		chr5	TogoVar
HSPBP1_chr19_55257223_55285110	55258561	TCGCGCAG others(20): Show TCGCGCAGGCGCCGGGGCTCGCGGGGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0050 a0004c0010t0001g0050	1	312	0.0032	-27	c.40 others(38): Show c.4020_*4046delGACCCCGCGAGCCCCGGCGCCTGCGCG		HSPBP1	ENSG00000133265.11	transcript	ENST00000433386.7	protein_coding					3661		chr19	TogoVar
HTR1F_chr3_87787706_87998839	87969968	CTTGCCTG others(20): Show CTTGCCTGCTGCCATGCAGACATGGCTT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18994.hp1 NA19012.hp2 others(1): Show NA18949.hp2 NA18994.hp1 NA19012.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0084 a0001c0001t0002g0085 others(1): Show a0001c0001t0002g0053 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0106	4	248	0.0161	-27	c.-42 others(46): Show c.-42-20733_-42-20707delGCTGCCATGCAGACATGGCTTTTGCC T		HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR1F_chr3_87787706_87998839	87979047	GGAGGGAG others(20): Show GGAGGGAGGGAGGGGGGGGAGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18998.hp2 NA19007.hp1 others(2): Show HG02132.hp2 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0181 a0001c0001t0004g0202	5	248	0.0202	-27	c.-42 others(46): Show c.-42-11659_-42-11633delAGGGAGGGAGGGGGGGGAGGGAGGGA G		HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
HTRA1_chr10_122456553_122519907	122472369	CTATTATT others(20): Show CTATTATTATTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	76	0.0132	-27	c.472 others(46): Show c.472+10262_472+10288delATTATTATTATTATTATTATTATTAT T		HTRA1	ENSG00000166033.13	transcript	ENST00000368984.8	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
HTRA3_chr4_8264754_8312098	8310937	GCCCTGCA others(20): Show GCCCTGCACCCATGCAGCCATCACTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02055.hp1 others(13): Show HG00741.hp1 HG01891.hp1 HG02055.hp1 HG02615.hp1 HG02647.hp1 HG02970.hp1 HG03139.hp1 HG03239.hp2 NA18942.hp2 NA18963.hp2 NA18973.hp1 NA18994.hp2 NA19055.hp1 NA19055.hp2 NA19067.hp2 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0044 others(13): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0197 a0001c0001t0001g0264 a0001c0001t0001g0278 a0001c0001t0001g0302 a0001c0001t0001g0311 a0001c0001t0001g0317 a0009c0010t0001g0277	16	386	0.0415	-27	c.48 others(38): Show c.4802_*4828delCCCTGCACCCATGCAGCCATCACTGAT		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding					3840		chr4	TogoVar
HTRA3_chr4_8264754_8312098	8310949	TGCAGCCA others(20): Show TGCAGCCATCACTGATCCCTGCACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(140): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0011 a0002c0002 others(6): Show a0001c0001 a0001c0011 a0002c0002 a0004c0008 a0006c0006 a0007c0013 a0008c0012 a0010c0003 a0011c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0019 a0001c0011t0001 a0002c0002t0001 a0004c0008t0001 a0006c0006t0001 a0007c0013t0001 a0008c0012t0001 a0010c0003t0001 a0011c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(128): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0338 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0005g0122 a0001c0001t0008g0324 a0001c0001t0017g0352 a0001c0001t0019g0248 a0001c0011t0001g0050 a0002c0002t0001g0001 a0002c0002t0001g0059 a0004c0008t0001g0113 a0006c0006t0001g0066 a0007c0013t0001g0099 a0008c0012t0001g0244 a0010c0003t0001g0297 a0011c0004t0001g0096	143	384	0.3724	-27	c.48 others(38): Show c.4814_*4840delGCAGCCATCACTGATCCCTGCACCCAC		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding					3852		chr4	TogoVar
HTRA3_chr4_8264754_8312098	8310964	TCCCTGCA others(20): Show TCCCTGCACCCACGCAGCCATCACTGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(54): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00741.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18952.hp2 NA18963.hp1 NA18971.hp1 NA18979.hp1 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA19011.hp2 NA19056.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 others(53): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0255 a0001c0001t0001g0265 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0322 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0003g0161 a0001c0001t0004g0188 a0001c0001t0010g0037 a0001c0001t0012g0176 a0001c0001t0016g0088 a0001c0001t0018g0249 a0001c0005t0001g0157 a0002c0002t0001g0069	57	248	0.2298	-27	c.48 others(38): Show c.4829_*4855delCCCTGCACCCACGCAGCCATCACTGAG		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding					3867		chr4	TogoVar
HYAL1_chr3_50294893_50308574	50304289	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	374	0.0027	-27	c.-87 others(36): Show c.-875_-849delATATATATATATATATATATTTTTTTT		HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding					716		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304291	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	335	0.0030	-27	c.-87 others(36): Show c.-877_-851delATATATATATATATATATATATTTTTT		HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding					718		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304293	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02965.hp2 HG03139.hp1 others(5): Show HG01074.hp2 HG02965.hp2 HG03139.hp1 HG03195.hp1 HG03516.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	8	342	0.0234	-27	c.-87 others(36): Show c.-879_-853delATATATATATATATATATATATATTTT		HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding					720		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304295	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02976.hp1 HG02818.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0003 a0001c0001t0001g0027	2	382	0.0052	-27	c.-88 others(36): Show c.-881_-855delATATATATATATATATATATATATATT		HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding					722		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304289	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	370	0.0027	-27	c.-51 others(38): Show c.-5121_-5095delATATATATATATATATATATTTTTTTT		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					4885		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304291	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	336	0.0030	-27	c.-51 others(38): Show c.-5123_-5097delATATATATATATATATATATATTTTTT		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					4887		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304293	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02965.hp1 HG03195.hp1 others(4): Show HG01074.hp1 HG02965.hp1 HG03195.hp1 HG03516.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	7	347	0.0202	-27	c.-51 others(38): Show c.-5125_-5099delATATATATATATATATATATATATTTT		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					4889		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304295	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG02818.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0039 a0001c0001t0003g0040	2	376	0.0053	-27	c.-51 others(38): Show c.-5127_-5101delATATATATATATATATATATATATATT		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					4891		chr3	TogoVar
HYDIN_chr16_70797084_71235722	70864330	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02683.hp2 NA18612.hp2 HG01256.hp1 HG02683.hp2 NA18612.hp2	a0001 a0005 a0001 a0005	a0001c0072 a0005c0045 a0005c0046 a0001c0072 a0005c0045 a0005c0046	a0001c0072t0023 a0005c0045t0022 a0005c0046t0002 a0001c0072t0023 a0005c0045t0022 a0005c0046t0002	a0001c0072t0023g0022 a0005c0045t0022g0128 a0005c0046t0002g0007 a0001c0072t0023g0022 a0005c0045t0022g0128 a0005c0046t0002g0007	3	10	0.3000	-27	c.114 others(48): Show c.11472-1175_11472-1149delTTTTTTTTTTTTTTTTTTTTTTTT TTT		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	67/85						chr16	TogoVar
HYLS1_chr11_125882668_125905646	125904560	AGCGAGCG others(20): Show AGCGAGCGGCTGAACAGCCACGTAACCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	433	0.0023	-27	c.42 others(38): Show c.4293_*4319delGCGAGCGGCTGAACAGCCACGTAACCG		HYLS1	ENSG00000198331.11	transcript	ENST00000425380.7	protein_coding					3915		chr11	TogoVar
IARS1_chr9_92205207_92298697	92298329	GTCAGAAC others(20): Show GTCAGAACCTATTAGGGGAAAAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0032 a0002c0004t0003g0032	1	336	0.0030	-27	c.-47 others(38): Show c.-4753_-4727delTCTTCTTTTTCCCCTAATAGGTTCTGA		IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding					4633		chr9	TogoVar
ICAM1_chr19_10266120_10291615	10271783	TGGGGAAG others(20): Show TGGGGAAGTCCAGGGCTGCTTCTACTTG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0279 a0002c0002t0017g0279	1	450	0.0022	-27	c.67+ others(40): Show c.67+564_67+590delGTCCAGGGCTGCTTCTACTTGGGGGAA		ICAM1	ENSG00000090339.9	transcript	ENST00000264832.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
IFI16_chr1_159004907_159060151	159029945	GTGCTGGG others(20): Show GTGCTGGGATTACAGGCATGAGCCACCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(121): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01109.hp1 HG01192.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18981.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp2 NA19062.hp2 NA19067.hp2 NA19076.hp1 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20129.hp1	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0012 a0013	a0002c0002 a0002c0023 a0003c0004 others(11): Show a0002c0002 a0002c0023 a0003c0004 a0003c0017 a0004c0005 a0004c0015 a0005c0007 a0005c0008 a0006c0010 a0006c0019 a0007c0009 a0011c0024 a0012c0020 a0013c0022	a0002c0002t0001 a0002c0002t0002 a0002c0023t0002 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0023t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0003c0017t0005 a0004c0005t0001 a0004c0015t0002 a0005c0007t0001 a0005c0008t0001 a0006c0010t0002 a0006c0019t0001 a0007c0009t0001 a0011c0024t0002 a0012c0020t0002 a0013c0022t0001	a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0175 others(89): Show a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0175 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0011 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0037 a0002c0002t0002g0042 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0054 a0002c0002t0002g0056 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0109 a0002c0023t0002g0110 a0003c0004t0001g0039 a0003c0004t0001g0040 a0003c0004t0001g0041 a0003c0004t0001g0055 a0003c0004t0001g0205 a0003c0004t0001g0214 a0003c0004t0001g0236 a0003c0004t0002g0007 a0003c0004t0002g0015 a0003c0004t0002g0038 a0003c0004t0002g0044 a0003c0004t0002g0049 a0003c0004t0002g0052 a0003c0004t0002g0057 a0003c0004t0002g0065 a0003c0004t0002g0067 a0003c0004t0002g0077 a0003c0004t0004g0232 a0003c0017t0005g0211 a0004c0005t0001g0006 a0004c0005t0001g0030 a0004c0005t0001g0031 a0004c0005t0001g0171 a0004c0005t0001g0221 a0004c0005t0001g0223 a0004c0005t0001g0224 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0229 a0004c0005t0001g0230 a0004c0005t0001g0231 a0004c0015t0002g0195 a0005c0007t0001g0219 a0005c0008t0001g0029 a0005c0008t0001g0203 a0005c0008t0001g0204 a0005c0008t0001g0207 a0005c0008t0001g0220 a0006c0010t0002g0027 a0006c0010t0002g0028 a0006c0010t0002g0212 a0006c0019t0001g0218 a0007c0009t0001g0114 a0007c0009t0001g0116 a0007c0009t0001g0118 a0007c0009t0001g0222 a0011c0024t0002g0053 a0012c0020t0002g0048 a0013c0022t0001g0217	124	318	0.3899	-27	c.116 others(46): Show c.1162-2575_1162-2549delTGGGATTACAGGCATGAGCCACCATG C		IFI16	ENSG00000163565.20	transcript	ENST00000295809.12	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
IFIH1_chr2_162262074_162323684	162314429	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18941.hp1 NA18948.hp1 others(14): Show HG03654.hp1 NA18941.hp1 NA18948.hp1 NA18962.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18990.hp2 NA19004.hp1 NA19058.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19084.hp2 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0002 a0001c0003 a0003c0002	a0001c0003t0001 a0003c0002t0001 a0001c0003t0001 a0003c0002t0001	a0001c0003t0001g0004 a0001c0003t0001g0009 a0001c0003t0001g0157 others(9): Show a0001c0003t0001g0004 a0001c0003t0001g0009 a0001c0003t0001g0157 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0170 a0003c0002t0001g0158	17	215	0.0791	-27	c.453 others(44): Show c.453+3399_453+3425delGAAAGAAAGAAAGAAAGAAAGAAAGAA		IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding	1/15						chr2	TogoVar
IFIT1_chr10_89387623_89411487	89394582	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0060 a0001c0003t0007g0060	1	428	0.0023	-27	c.5+1 others(40): Show c.5+1866_5+1892delTATATATATATATATATATATATATAT		IFIT1	ENSG00000185745.10	transcript	ENST00000371804.4	protein_coding	1/1						chr10	TogoVar
IFITM10_chr11_1727406_1755595	1754358	GGAGGGAT others(20): Show GGAGGGATGGAGGGGATGGAGGGGCATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 NA18987.hp1 HG03490.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0123 a0001c0001t0001g0046 a0001c0001t0001g0123	2	399	0.0050	-27	c.-39 others(38): Show c.-3943_-3917delTATGCCCCTCCATCCCCTCCATCCCTC		IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding					3764		chr11	TogoVar
IFNA8_chr9_21404117_21415185	21410968	GAAAGAAT others(20): Show GAAAGAATGTGAGTTACTTTTTCTGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	456	0.0022	-27	c.12 others(38): Show c.1223_*1249delAAAGAATGTGAGTTACTTTTTCTGTGC		IFNA8	ENSG00000120242.4	transcript	ENST00000380205.2	protein_coding					784		chr9	TogoVar
IFNLR1_chr1_24149168_24192289	24162713	TTCTTTCT others(20): Show TTCTTTCTTTCTTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01243.hp2 others(3): Show HG00438.hp2 HG00544.hp2 HG01243.hp2 HG02896.hp1 HG02897.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0006t0002	a0001c0001t0002g0019 a0001c0001t0002g0239 a0001c0001t0008g0288 others(2): Show a0001c0001t0002g0019 a0001c0001t0002g0239 a0001c0001t0008g0288 a0001c0002t0001g0174 a0001c0006t0002g0024	6	312	0.0192	-27	c.368 others(44): Show c.368-1056_368-1030delGAAAGAAAGAAAGAAAAGAAAGAAAGA		IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding	3/6						chr1	TogoVar
IFT122_chr3_129435224_129525507	129516816	GCACACAC others(20): Show GCACACACACACAGAGACTGCCCCTGCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	354	0.0028	-27	c.326 others(44): Show c.3266-640_3266-614delGAGACTGCCCCTGCACACACACACACA		IFT122	ENSG00000163913.14	transcript	ENST00000348417.7	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
IFT52_chr20_43585937_43652299	43622745	ATGTAAAT others(20): Show ATGTAAATATAAATATATACAAATTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02280.hp1 HG03239.hp2 others(2): Show HG00738.hp1 HG02280.hp1 HG03239.hp2 HG04204.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0169 a0001c0001t0001g0264 a0005c0004t0001g0190	5	298	0.0168	-27	c.769 others(44): Show c.769-1125_769-1099delAATTGTGTGTAAATATAAATATATACA		IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
IFT88_chr13_20562157_20696444	20566585	CTAAGCGA others(20): Show CTAAGCGAGTTAGTGACTGCGCGGAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	306	0.0033	-27	c.-67 others(36): Show c.-677_-651delTAAGCGAGTTAGTGACTGCGCGGAAAA		IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding					571		chr13	TogoVar
IGF2BP2_chr3_185638130_185830042	185665482	AAGGAGGA others(20): Show AAGGAGGAGAAGGAGGAGGAGAAGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0199 a0001c0001t0009g0199	1	214	0.0047	-27	c.120 others(46): Show c.1200+7032_1200+7058delCCTCCTTCTCCTCCTCCTTCTCCTCC T		IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	10/15						chr3	TogoVar
IGFBP6_chr12_53092667_53107340	53099375	TTGGTTAA others(20): Show TTGGTTAAGGGTTGAATCCATGTGCTCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	414	0.0024	-27	c.334 others(44): Show c.334+1328_335-1307delTTAAGGGTTGAATCCATGTGCTCCTGG		IGFBP6	ENSG00000167779.9	transcript	ENST00000301464.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
IGFBP7_chr4_57025773_57115385	57113076	AGGTTGAG others(20): Show AGGTTGAGGAAATTCCTTTCTATTCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	344	0.0029	-27	c.-27 others(38): Show c.-2752_-2726delACAGAATAGAAAGGAATTTCCTCAACC		IGFBP7	ENSG00000163453.11	transcript	ENST00000295666.6	protein_coding					2692		chr4	TogoVar
IKBKB_chr8_42266302_42337460	42303110	AGAGAGAG others(20): Show AGAGAGAGAATGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp2 NA18522.hp1 others(1): Show HG02615.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0009 a0001c0001t0001g0124 a0001c0001t0013g0082 a0001c0001t0001g0009 a0001c0001t0001g0124 a0001c0001t0013g0082	4	276	0.0145	-27	c.389 others(44): Show c.389-2056_389-2030delGAGAGAGGAGAGAGAATGAGAGAGAGA		IKBKB	ENSG00000104365.16	transcript	ENST00000520810.6	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
IKZF3_chr17_39752718_39869312	39855957	AATGTATA others(20): Show AATGTATATTGTATATGTACAATATAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00558.hp1 others(33): Show HG00140.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01261.hp2 HG01361.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02818.hp2 HG02895.hp2 HG03098.hp2 HG03540.hp1 HG03654.hp1 NA18939.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA19007.hp1 NA19043.hp1 NA19062.hp1 NA19067.hp1 NA19084.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0052 a0001c0002t0002 a0001c0002t0004 others(7): Show a0001c0001t0052 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0015 a0001c0002t0046 a0001c0002t0054 a0001c0004t0023 a0001c0005t0002	a0001c0001t0052g0217 a0001c0002t0002g0009 a0001c0002t0002g0150 others(30): Show a0001c0001t0052g0217 a0001c0002t0002g0009 a0001c0002t0002g0150 a0001c0002t0002g0208 a0001c0002t0002g0215 a0001c0002t0004g0010 a0001c0002t0004g0134 a0001c0002t0004g0154 a0001c0002t0004g0207 a0001c0002t0004g0209 a0001c0002t0004g0210 a0001c0002t0004g0211 a0001c0002t0004g0216 a0001c0002t0004g0219 a0001c0002t0004g0220 a0001c0002t0004g0221 a0001c0002t0005g0007 a0001c0002t0005g0132 a0001c0002t0005g0133 a0001c0002t0005g0155 a0001c0002t0005g0157 a0001c0002t0009g0149 a0001c0002t0009g0212 a0001c0002t0009g0213 a0001c0002t0009g0214 a0001c0002t0009g0224 a0001c0002t0015g0147 a0001c0002t0046g0218 a0001c0002t0054g0156 a0001c0004t0023g0231 a0001c0004t0023g0235 a0001c0005t0002g0229 a0001c0005t0002g0230	36	95	0.3789	-27	c.7+8 others(40): Show c.7+8136_7+8162delGTTATATTGTACATATACAATATACAT		IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7						chr17	TogoVar
IL11_chr19_55359382_55375463	55365215	TGGTGCAC others(20): Show TGGTGCACACCTGTGATCCCAGCTAATC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0017 a0004c0007t0017	a0004c0007t0017g0075 a0004c0007t0017g0075	1	350	0.0029	-27	c.76 others(36): Show c.765_*791delGATTAGCTGGGATCACAGGTGTGCACC		IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding	5/5				765		chr19	TogoVar
IL19_chr1_206765773_206847981	206781918	TAGTTATA others(20): Show TAGTTATATATACATATATATGTATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02922.hp2 others(4): Show HG02145.hp2 HG02258.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 NA19043.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0003c0003t0006	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0003g0282 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0293 a0001c0001t0006g0021 a0003c0003t0006g0020	7	361	0.0194	-27	c.-14 others(48): Show c.-149+10841_-149+10867delAGTTATATATACATATATATGTAT ATA		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6						chr1	TogoVar
IL1RAPL1_chrX_28582446_29961718	29137110	GCTTACTG others(20): Show GCTTACTGCTTACCTTGGCCTCAGCTAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01192.hp1 others(45): Show HG00642.hp1 HG00673.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01943.hp1 HG02055.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18982.hp1 NA18986.hp1 NA18990.hp1 NA19004.hp1 NA19056.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0002t0004 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0058 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0004g0002 a0001c0001t0004g0069 a0001c0001t0004g0074 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0125 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0001t0005g0057 a0001c0001t0005g0097 a0001c0001t0006g0073 a0001c0001t0007g0030 a0001c0001t0008g0061 a0001c0001t0011g0054 a0001c0002t0004g0082 a0002c0003t0001g0089	48	135	0.3556	-27	c.83- others(46): Show c.83-145797_83-145771delACTGCTTACCTTGGCCTCAGCTACCT T		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar

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