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
KANK3_chr19_8317584_8348262	8346366	AAAATATA others(11): Show AAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG02273.hp2 HG01993.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	406	0.0049	-18	c.-31 others(29): Show c.-3188_-3171delATATATATATATATATTT		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding					3105		chr19	TogoVar
KANK3_chr19_8317584_8348262	8346368	AATATATA others(11): Show AATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00609.hp1 others(46): Show HG00140.hp2 HG00323.hp1 HG00609.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 NA18612.hp2 NA18944.hp2 NA18945.hp2 NA18967.hp2 NA18969.hp2 NA18977.hp1 NA18997.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0013 a0015	a0001c0001 a0001c0015 a0002c0002 others(7): Show a0001c0001 a0001c0015 a0002c0002 a0003c0003 a0004c0019 a0004c0033 a0006c0006 a0007c0007 a0013c0032 a0015c0025	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0003c0003t0001 a0004c0019t0002 a0004c0033t0004 a0006c0006t0002 a0007c0007t0001 a0013c0032t0001 a0015c0025t0001	a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0001g0211 others(45): Show a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0001g0211 a0001c0015t0001g0218 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0242 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0345 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0001g0361 a0002c0002t0001g0362 a0002c0002t0001g0363 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0372 a0002c0002t0001g0373 a0002c0002t0001g0374 a0002c0002t0001g0376 a0003c0003t0001g0332 a0004c0019t0002g0273 a0004c0033t0004g0076 a0006c0006t0002g0287 a0007c0007t0001g0008 a0007c0007t0001g0085 a0007c0007t0001g0086 a0007c0007t0001g0178 a0013c0032t0001g0258 a0015c0025t0001g0370	49	406	0.1207	-18	c.-31 others(29): Show c.-3190_-3173delATATATATATATATATAT		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding					3107		chr19	TogoVar
KANK4_chr1_62231165_62324434	62293062	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01169.hp2 others(41): Show HG00140.hp2 HG00738.hp1 HG01169.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03834.hp1 NA18944.hp2 NA18955.hp2 NA18960.hp2 NA18966.hp1 NA18983.hp1 NA18984.hp2 NA19004.hp2 NA19056.hp1 NA19068.hp2 NA19083.hp1 NA19090.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0022	a0001c0001 a0002c0003 a0002c0004 others(7): Show a0001c0001 a0002c0003 a0002c0004 a0002c0008 a0002c0050 a0003c0002 a0003c0005 a0003c0030 a0011c0021 a0022c0040	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0029 a0002c0003t0002 a0002c0004t0006 a0002c0008t0001 a0002c0008t0003 a0002c0050t0010 a0003c0002t0001 a0003c0002t0007 a0003c0005t0033 a0003c0030t0001 a0011c0021t0001 a0022c0040t0005	a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0117 others(41): Show a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0229 a0001c0001t0001g0256 a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0125 a0001c0001t0003g0142 a0001c0001t0003g0228 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0315 a0001c0001t0004g0318 a0001c0001t0005g0120 a0001c0001t0008g0013 a0001c0001t0029g0316 a0002c0003t0002g0233 a0002c0004t0006g0040 a0002c0008t0001g0300 a0002c0008t0001g0309 a0002c0008t0003g0308 a0002c0050t0010g0227 a0003c0002t0001g0042 a0003c0002t0001g0044 a0003c0002t0001g0143 a0003c0002t0001g0231 a0003c0002t0001g0232 a0003c0002t0007g0307 a0003c0005t0033g0321 a0003c0030t0001g0074 a0003c0030t0001g0075 a0011c0021t0001g0230 a0022c0040t0005g0162	44	322	0.1367	-18	c.-70 others(37): Show c.-70-11446_-70-11429delCACACACACACACACACA		KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	1/9						chr1	TogoVar
KANSL1L_chr2_210016421_210176409	210079612	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02895.hp1 others(4): Show HG01891.hp2 HG02258.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03209.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0003t0011	a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0006g0240 others(4): Show a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0020g0003 a0001c0003t0011g0236	7	284	0.0247	-18	c.155 others(37): Show c.1551-3874_1551-3857delTATATATATATATATATA		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14						chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210171295	GGCCGCCG others(11): Show GGCCGCCGCCGCCGCCGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02056.hp2 HG02071.hp2 others(14): Show HG01243.hp2 HG02056.hp2 HG02071.hp2 HG02486.hp1 HG02970.hp1 HG03139.hp1 HG03225.hp1 NA18522.hp1 NA18942.hp1 NA18946.hp1 NA18967.hp2 NA18969.hp2 NA18992.hp1 NA19002.hp1 NA19009.hp1 NA19030.hp2 NA19087.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0004 a0004c0005 others(1): Show a0001c0001 a0003c0004 a0004c0005 a0006c0007	a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 a0003c0004t0015 a0004c0005t0003 a0006c0007t0009	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 others(14): Show a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0009g0011 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0021g0023 a0003c0004t0015g0008 a0003c0004t0015g0009 a0004c0005t0003g0019 a0004c0005t0003g0020 a0006c0007t0009g0010	17	284	0.0599	-18	c.-19 others(27): Show c.-194_-177delGGCGGCGGCGGCGGCGGC		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	1/15				16714		chr2	TogoVar
KANSL1_chr17_46024916_46198429	46052963	CCAAAAAA others(11): Show CCAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp2 others(15): Show HG00140.hp1 HG00280.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02257.hp2 HG02602.hp2 HG02735.hp2 HG03239.hp1 HG03704.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0024 a0003c0004t0005 a0003c0004t0024	a0003c0004t0005g0301 a0003c0004t0005g0303 a0003c0004t0005g0305 others(15): Show a0003c0004t0005g0301 a0003c0004t0005g0303 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0005g0308 a0003c0004t0005g0310 a0003c0004t0005g0311 a0003c0004t0005g0312 a0003c0004t0005g0313 a0003c0004t0005g0314 a0003c0004t0005g0315 a0003c0004t0005g0316 a0003c0004t0005g0317 a0003c0004t0005g0318 a0003c0004t0005g0319 a0003c0004t0005g0320 a0003c0004t0024g0300	18	321	0.0561	-18	c.184 others(37): Show c.1849-2277_1849-2260delTTTTTTTTTTTTTTTTTG		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46058733	ACACACAC others(11): Show ACACACACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG01175.hp1 others(28): Show HG00438.hp2 HG00597.hp1 HG01175.hp1 HG01261.hp2 HG01346.hp2 HG01952.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02155.hp1 HG02293.hp2 HG02300.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp2 NA18612.hp2 NA18944.hp1 NA18946.hp1 NA18960.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18995.hp2 NA18998.hp1 NA19056.hp2 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0001 a0001c0002t0018 a0005c0007t0001 others(1): Show a0001c0002t0001 a0001c0002t0018 a0005c0007t0001 a0005c0007t0002	a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0017 others(28): Show a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0194 a0001c0002t0018g0062 a0005c0007t0001g0063 a0005c0007t0002g0045	31	321	0.0966	-18	c.184 others(37): Show c.1848+7786_1848+7803delAGAGAGAGTGTGTGTGTG		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46058735	ACACACAC others(11): Show ACACACACACTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	321	0.0031	-18	c.184 others(37): Show c.1848+7784_1848+7801delAGAGAGAGAGTGTGTGTG		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46058737	ACACACAC others(11): Show ACACACACTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02970.hp1 others(1): Show HG02280.hp1 HG02451.hp2 HG02970.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 others(1): Show a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223	4	321	0.0125	-18	c.184 others(37): Show c.1848+7782_1848+7799delAGAGAGAGAGAGTGTGTG		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46058743	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01993.hp1 HG02071.hp2 others(9): Show HG00639.hp1 HG01993.hp1 HG02071.hp2 HG02145.hp2 NA18959.hp1 NA18972.hp1 NA18981.hp2 NA19007.hp2 NA19063.hp1 NA19080.hp2 NA19081.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0004 a0001c0001t0002 a0001c0006t0004	a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 others(9): Show a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0188 a0001c0006t0004g0112	12	321	0.0374	-18	c.184 others(37): Show c.1848+7776_1848+7793delAGAGAGAGAGAGAGAGAG		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46062110	CAAACAAA others(11): Show CAAACAAACAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0268 a0002c0003t0012g0268	1	321	0.0031	-18	c.184 others(37): Show c.1848+4409_1848+4426delTTTTTTTTTTGTTTGTTT		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46105931	ACACACAC others(11): Show ACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA21309.hp1 HG01069.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0236 a0001c0001t0011g0237 a0001c0001t0011g0236 a0001c0001t0011g0237	2	321	0.0062	-18	c.129 others(39): Show c.1290-11248_1290-11231delGGTGTGTGTGTGTGTGTG		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46175310	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02040.hp2 HG02145.hp2 others(2): Show HG01069.hp2 HG02040.hp2 HG02145.hp2 NA19062.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0006c0008 a0001c0001 a0001c0006 a0006c0008	a0001c0001t0011 a0001c0006t0004 a0006c0008t0002 a0001c0001t0011 a0001c0006t0004 a0006c0008t0002	a0001c0001t0011g0236 a0001c0001t0011g0237 a0001c0006t0004g0112 others(2): Show a0001c0001t0011g0236 a0001c0001t0011g0237 a0001c0006t0004g0112 a0006c0008t0002g0108 a0006c0008t0002g0138	5	321	0.0156	-18	c.-89 others(35): Show c.-89-3096_-89-3079delCACACACACACACACACA		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	1/14						chr17	TogoVar
KANSL2_chr12_48648211_48687238	48649855	AAAAAAAA others(11): Show AAAAAAAAAAAAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	322	0.0031	-18	c.41 others(29): Show c.4171_*4188delCTTTCTTTTTTTTTTTTT		KANSL2	ENSG00000139620.13	transcript	ENST00000420613.7	protein_coding					3355		chr12	TogoVar
KARS1_chr16_75622724_75652665	75642185	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp2 HG01884.hp2 others(17): Show HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01975.hp1 HG02074.hp2 HG02083.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03540.hp1 NA18941.hp1 NA19004.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0174 a0001c0004t0001g0099 a0001c0004t0001g0100	20	380	0.0526	-18	c.63- others(31): Show c.63-480_63-463delAAAAAAAAAAAAAAAAAA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding	1/13						chr16	TogoVar
KASH5_chr19_49383249_49422990	49402907	AGAAGAAG others(11): Show AGAAGAAGGTGGTCTCTGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0005 a0001c0006 others(8): Show a0001c0001 a0001c0005 a0001c0006 a0001c0014 a0001c0015 a0001c0018 a0003c0008 a0005c0017 a0006c0019 a0007c0016 a0008c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0005t0006 a0001c0005t0008 a0001c0005t0010 a0001c0006t0001 a0001c0014t0003 a0001c0015t0002 a0001c0018t0002 a0003c0008t0003 a0005c0017t0007 a0006c0019t0002 a0007c0016t0002 a0008c0020t0003	a0001c0001t0001g0139 a0001c0001t0002g0003 a0001c0001t0002g0008 others(168): Show a0001c0001t0001g0139 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0211 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0007g0155 a0001c0001t0007g0157 a0001c0001t0009g0003 a0001c0001t0009g0310 a0001c0001t0012g0261 a0001c0001t0013g0177 a0001c0001t0014g0179 a0001c0005t0006g0156 a0001c0005t0006g0159 a0001c0005t0006g0161 a0001c0005t0006g0162 a0001c0005t0006g0163 a0001c0005t0006g0165 a0001c0005t0006g0166 a0001c0005t0006g0167 a0001c0005t0008g0154 a0001c0005t0008g0158 a0001c0005t0008g0160 a0001c0005t0010g0051 a0001c0006t0001g0015 a0001c0006t0001g0071 a0001c0006t0001g0077 a0001c0006t0001g0078 a0001c0006t0001g0079 a0001c0006t0001g0141 a0001c0014t0003g0204 a0001c0015t0002g0230 a0001c0018t0002g0251 a0003c0008t0003g0193 a0003c0008t0003g0201 a0005c0017t0007g0164 a0006c0019t0002g0306 a0007c0016t0002g0305 a0008c0020t0003g0188	183	354	0.5170	-18	c.798 others(35): Show c.798+3439_798+3456delAGAAGGTGGTCTCTGGGA		KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	9/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
KAT14_chr20_18132863_18193035	18139633	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03490.hp2 HG02135.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0072 a0001c0001t0005g0287 a0001c0001t0002g0072 a0001c0001t0005g0287	2	346	0.0058	-18	c.-45 others(37): Show c.-454+1607_-454+1624delGTGTGTGTGTGTGTGTGT		KAT14	ENSG00000149474.15	transcript	ENST00000688188.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
KAT14_chr20_18132863_18193035	18139658	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	346	0.0029	-18	c.-45 others(37): Show c.-454+1609_-454+1626delGTGTGTGTGTGTGTGTTT		KAT14	ENSG00000149474.15	transcript	ENST00000688188.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
KAT2A_chr17_42108111_42126367	42116527	GGGTGAAA others(11): Show GGGTGAAACCCTGCAACAT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0027 a0002c0014t0001g0027	1	354	0.0028	-18	c.176 others(35): Show c.1764+490_1764+507delATGTTGCAGGGTTTCACC		KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding	11/17						chr17	TogoVar
KAT2B_chr3_20035446_20159404	20106959	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	374	0.0027	-18	c.852 others(35): Show c.852-4617_852-4600delGTATATATATATATATAT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20121729	CATATGTG others(11): Show CATATGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	374	0.0027	-18	c.127 others(35): Show c.1277-938_1277-921delATATGTGTGTGTGTGTGT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	8/17						chr3	TogoVar
KAT2B_chr3_20035446_20159404	20121730	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0315 a0001c0005t0001g0315	1	374	0.0027	-18	c.127 others(35): Show c.1277-936_1277-919delATGTGTGTGTGTGTGTGT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20121732	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	374	0.0027	-18	c.127 others(35): Show c.1277-902_1277-885delGTGTGTGTGTGTGTGTGT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6A_chr8_41924479_42056987	41946493	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18959.hp1 HG01891.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0087 a0002c0002t0079 a0001c0003t0087 a0002c0002t0079	a0001c0003t0087g0174 a0002c0002t0079g0344 a0001c0003t0087g0174 a0002c0002t0079g0344	2	374	0.0054	-18	c.199 others(33): Show c.1996+80_1996+97delGTGTGTGTGTGTGTGTGT		KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	12/16						chr8	TogoVar
KAT6B_chr10_74821600_75037624	74830731	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	236	0.0042	-18	c.-32 others(37): Show c.-329+3967_-329+3984delATATATATATATATATAT		KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT6B_chr10_74821600_75037624	74830754	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA20752.hp1 HG03669.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0005 a0001c0001t0002g0006	2	236	0.0085	-18	c.-32 others(37): Show c.-329+3971_-329+3988delATATATATATATATTTTT		KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT6B_chr10_74821600_75037624	74830756	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG02965.hp2 HG00639.hp2 HG00735.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0064 a0001c0001t0002g0081 a0002c0002t0001g0082 a0001c0001t0002g0064 a0001c0001t0002g0081 a0002c0002t0001g0082	3	236	0.0127	-18	c.-32 others(37): Show c.-329+3973_-329+3990delATATATATATATTTTTTT		KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
KATNAL1_chr13_30197630_30312551	30205925	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG03516.hp2 HG04115.hp1 HG02622.hp1 HG03516.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0134 a0001c0001t0203 a0001c0002t0059 a0001c0001t0134 a0001c0001t0203 a0001c0002t0059	a0001c0001t0134g0028 a0001c0001t0203g0338 a0001c0002t0059g0006 a0001c0001t0134g0028 a0001c0001t0203g0338 a0001c0002t0059g0006	3	386	0.0078	-18	c.25 others(29): Show c.2597_*2614delACACACACACACACACAC		KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	11/11				2597		chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30274897	GCGCGCGC others(11): Show GCGCGCGCGCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0206 a0001c0001t0206	a0001c0001t0206g0307 a0001c0001t0206g0307	1	386	0.0026	-18	c.323 others(35): Show c.323+5148_323+5165delTGTGTGTGCGCGCGCGCG		KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10						chr13	TogoVar
KATNIP_chr16_27545144_27785344	27655177	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02647.hp1 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0070 a0001c0004t0002g0073 a0001c0004t0002g0070 a0001c0004t0002g0073	2	152	0.0132	-18	c.540 others(35): Show c.540+6477_540+6494delATATATATATATATATAT		KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27					INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713802	GTATATAC others(11): Show GTATATACATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 HG02055.hp2 HG02886.hp2	a0004 a0007 a0004 a0007	a0004c0007 a0007c0031 a0004c0007 a0007c0031	a0004c0007t0001 a0007c0031t0001 a0004c0007t0001 a0007c0031t0001	a0004c0007t0001g0105 a0007c0031t0001g0107 a0004c0007t0001g0105 a0007c0031t0001g0107	2	152	0.0132	-18	c.160 others(37): Show c.1605+4889_1605+4906delCATATATATATATATATA		KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27					INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27753874	ACATAAGC others(11): Show ACATAAGCATTTATTGAGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG03139.hp1 HG02109.hp2 HG02630.hp1 HG03139.hp1	a0001 a0014 a0001 a0014	a0001c0012 a0014c0019 a0001c0012 a0014c0019	a0001c0012t0002 a0014c0019t0003 a0001c0012t0002 a0014c0019t0003	a0001c0012t0002g0137 a0001c0012t0002g0143 a0014c0019t0003g0100 a0001c0012t0002g0137 a0001c0012t0002g0143 a0014c0019t0003g0100	3	152	0.0197	-18	c.355 others(35): Show c.3553-297_3553-280delATAAGCATTTATTGAGTC		KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	17/27					INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14681613	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	146	0.0069	-18	c.226 others(37): Show c.226+82418_226+82435delATATATATATATATATAT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681647	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0070 a0001c0001t0005g0070	1	146	0.0069	-18	c.226 others(37): Show c.226+82426_226+82443delATATATATATTTTTTTTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681649	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	146	0.0069	-18	c.226 others(37): Show c.226+82428_226+82445delATATATATTTTTTTTTTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681655	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	146	0.0069	-18	c.226 others(37): Show c.226+82434_226+82451delATTTTTTTTTTTTTTTTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14727450	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	146	0.0069	-18	c.226 others(39): Show c.226+128256_226+128273delTTTTTTTTTTTTTTTTTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14805762	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0070 a0001c0001t0005g0070	1	146	0.0069	-18	c.227 others(39): Show c.227-154895_227-154878delTAATAATAATAATAATAA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14841405	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(75): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02257.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03492.hp2 HG03654.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18986.hp1 NA19005.hp1 NA19005.hp2 NA19056.hp2 NA19079.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0003 a0001c0012 others(11): Show a0001c0001 a0001c0003 a0001c0012 a0001c0013 a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0003c0005 a0003c0017 a0004c0016 a0005c0015 a0006c0009 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0003t0002 a0001c0003t0018 a0001c0012t0006 a0001c0013t0021 a0002c0002t0001 a0002c0002t0005 a0002c0002t0012 a0002c0002t0022 a0002c0002t0030 a0002c0004t0001 a0002c0004t0024 a0002c0006t0006 a0002c0007t0001 a0003c0005t0002 a0003c0017t0002 a0004c0016t0002 a0005c0015t0013 a0006c0009t0001 a0008c0014t0005	a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0067 others(75): Show a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0060 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0129 a0001c0001t0002g0145 a0001c0001t0003g0018 a0001c0001t0003g0136 a0001c0001t0004g0044 a0001c0001t0004g0064 a0001c0001t0005g0070 a0001c0001t0007g0021 a0001c0001t0008g0043 a0001c0001t0015g0080 a0001c0001t0016g0096 a0001c0001t0017g0023 a0001c0001t0019g0029 a0001c0001t0023g0127 a0001c0001t0025g0093 a0001c0001t0027g0016 a0001c0003t0002g0002 a0001c0003t0002g0082 a0001c0003t0018g0123 a0001c0012t0006g0069 a0001c0013t0021g0051 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0028 a0002c0002t0001g0039 a0002c0002t0001g0047 a0002c0002t0001g0058 a0002c0002t0001g0062 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0143 a0002c0002t0005g0037 a0002c0002t0012g0098 a0002c0002t0012g0099 a0002c0002t0022g0077 a0002c0002t0030g0076 a0002c0004t0001g0089 a0002c0004t0001g0110 a0002c0004t0024g0059 a0002c0006t0006g0036 a0002c0007t0001g0001 a0002c0007t0001g0008 a0003c0005t0002g0074 a0003c0005t0002g0091 a0003c0005t0002g0100 a0003c0017t0002g0019 a0004c0016t0002g0022 a0005c0015t0013g0121 a0006c0009t0001g0034 a0008c0014t0005g0097	78	146	0.5343	-18	c.227 others(39): Show c.227-119260_227-119243delAAAAAAAAAAAAAAAAAA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14896041	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01071.hp1 others(45): Show HG00099.hp1 HG00323.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01358.hp2 HG01516.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02257.hp2 HG02273.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03688.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18942.hp2 NA18986.hp1 NA19056.hp1 NA19079.hp1 NA19079.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0003 a0001c0008 others(9): Show a0001c0001 a0001c0003 a0001c0008 a0001c0013 a0002c0002 a0002c0006 a0002c0007 a0003c0005 a0004c0016 a0005c0015 a0007c0011 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0003t0004 a0001c0003t0018 a0001c0008t0009 a0001c0013t0021 a0002c0002t0001 a0002c0002t0007 a0002c0002t0022 a0002c0006t0006 a0002c0007t0001 a0003c0005t0002 a0004c0016t0002 a0005c0015t0013 a0007c0011t0026 a0008c0014t0005	a0001c0001t0001g0068 a0001c0001t0002g0006 a0001c0001t0002g0007 others(45): Show a0001c0001t0001g0068 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0042 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0003g0088 a0001c0001t0004g0044 a0001c0001t0005g0070 a0001c0001t0007g0111 a0001c0001t0010g0131 a0001c0001t0027g0016 a0001c0001t0028g0095 a0001c0001t0031g0049 a0001c0003t0004g0094 a0001c0003t0004g0125 a0001c0003t0018g0123 a0001c0008t0009g0120 a0001c0013t0021g0051 a0002c0002t0001g0004 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0047 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0116 a0002c0002t0001g0124 a0002c0002t0001g0143 a0002c0002t0007g0072 a0002c0002t0022g0077 a0002c0006t0006g0036 a0002c0007t0001g0008 a0003c0005t0002g0074 a0004c0016t0002g0022 a0005c0015t0013g0121 a0007c0011t0026g0132 a0008c0014t0005g0097	48	146	0.3288	-18	c.227 others(37): Show c.227-64629_227-64612delTTTTTTTTTTTTTTTTTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918701	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0001 a0002c0007t0001g0001	1	146	0.0069	-18	c.227 others(37): Show c.227-41981_227-41964delAAAAAATATATATATATA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918703	AAAAAATA others(11): Show AAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	146	0.0069	-18	c.227 others(37): Show c.227-41979_227-41962delAAAATATATATATATATA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14943034	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	146	0.0069	-18	c.227 others(37): Show c.227-17649_227-17632delTGTGTGTGTGTGTGTGTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14						chr1	TogoVar
KAZN_chr1_14593685_15123043	15112329	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	146	0.0069	-18	c.204 others(33): Show c.2049-70_2049-53delGTGTGTGTGTGTGTGTGT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	2001456	GGAGGAGC others(11): Show GGAGGAGCTCGCGTCCCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0135 a0003c0004t0001g0135	1	389	0.0026	-18	c.272 others(25): Show c.272_289delTCGCGTCCCCTGAGGAGC	p.Leu others(11): Show p.Leu91_Glu96del	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	2/2	1439/6911	272/1872	91/623		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD12_chr3_127910232_127992666	127945164	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG02145.hp2 others(6): Show HG01123.hp1 HG01243.hp1 HG02145.hp2 HG02615.hp2 HG02735.hp2 HG02970.hp1 HG03471.hp2 HG04115.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017	a0001c0001t0004g0313 a0001c0001t0004g0323 a0001c0001t0007g0012 others(4): Show a0001c0001t0004g0313 a0001c0001t0004g0323 a0001c0001t0007g0012 a0001c0001t0007g0138 a0001c0001t0007g0173 a0001c0001t0007g0183 a0001c0001t0017g0182	9	402	0.0224	-18	c.149 others(39): Show c.1492+14902_1492+14919delTTTTTTTTTTTTTTTTTT		KBTBD12	ENSG00000187715.13	transcript	ENST00000405109.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCMF1_chr2_84966161_85064472	84973799	CTTTCTTT others(11): Show CTTTCTTTCTTTTTCTTTA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03491.hp1 HG01099.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0186 a0001c0001t0002g0185 a0001c0001t0001g0186 a0001c0001t0002g0185	2	274	0.0073	-18	c.16+ others(33): Show c.16+2346_16+2363delCTTTATTTCTTTCTTTTT		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84974658	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0271 a0001c0001t0053g0271	1	274	0.0037	-18	c.16+ others(33): Show c.16+3208_16+3225delATATATATATATATATAT		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84974679	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp1 HG02976.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0023 a0001c0001t0010 a0001c0001t0023	a0001c0001t0010g0260 a0001c0001t0023g0253 a0001c0001t0010g0260 a0001c0001t0023g0253	2	274	0.0073	-18	c.16+ others(33): Show c.16+3214_16+3231delATATATATATATTTTTTT		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84974681	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	274	0.0037	-18	c.16+ others(33): Show c.16+3216_16+3233delATATATATATTTTTTTTT		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar

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