Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KNG1_chr3_186712359_186749410	186725543	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG04204.hp1 NA21309.hp2 HG01167.hp2 HG04204.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0011 a0002c0002 a0002c0006 a0002c0011	a0002c0002t0008 a0002c0006t0002 a0002c0011t0001 a0002c0002t0008 a0002c0006t0002 a0002c0011t0001	a0002c0002t0008g0206 a0002c0006t0002g0073 a0002c0011t0001g0093 a0002c0002t0008g0206 a0002c0006t0002g0073 a0002c0011t0001g0093	3	430	0.0070	19	c.564 others(34): Show c.564+284_564+302dupTTTTTTTTTTTTTTTTTTT	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KNSTRN_chr15_40377721_40399288	40397480	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG01517.hp1 others(4): Show HG00735.hp2 HG01192.hp2 HG01517.hp1 HG01952.hp1 HG01978.hp2 NA18943.hp1 NA18978.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0005 a0002c0002 a0003c0003 a0006c0005	a0002c0002t0001 a0003c0003t0001 a0006c0005t0001 a0002c0002t0001 a0003c0003t0001 a0006c0005t0001	a0002c0002t0001g0006 a0002c0002t0001g0031 a0003c0003t0001g0006 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0031 a0003c0003t0001g0006 a0006c0005t0001g0073	7	374	0.0187	19	c.38 others(30): Show c.3883_*3884insAAAAAAAAAAAAAAAAAAA	KNSTRN	ENSG00000128944.14	transcript	ENST00000249776.13	protein_coding		3193		chr15	TogoVar
KPNA1_chr3_122416902_122519939	122476861	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	400	0.0025	19	c.130 others(36): Show c.130-9451_130-9433dupTTTTTTTTTTTTTTTTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	2/13			chr3	TogoVar
KPNA2_chr17_68030735_68051854	68035450	G G	GACCGCCC others(12): Show GACCGCCCGGCCGCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 NA19030.hp1 HG01361.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0106 a0001c0003t0001g0014 a0001c0002t0001g0106 a0001c0003t0001g0014	2	340	0.0059	19	c.-41 others(28): Show c.-414_-413insACCGCCCGGCCGCTCCCTC	KPNA2	ENSG00000182481.10	transcript	ENST00000330459.8	protein_coding		284		chr17	TogoVar
KPNA3_chr13_49694320_49797682	49730519	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19001.hp2 HG02257.hp2 NA19001.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0005 a0003c0005t0002 a0001c0001t0005 a0003c0005t0002	a0001c0001t0005g0196 a0003c0005t0002g0030 a0001c0001t0005g0196 a0003c0005t0002g0030	2	376	0.0053	19	c.383 others(36): Show c.383+1833_383+1851dupTTTTTTTTTTTTTTTTTTT	KPNA3	ENSG00000102753.10	transcript	ENST00000261667.8	protein_coding	6/16			chr13	TogoVar
KPNA5_chr6_116676211_116746867	116710894	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01516.hp1 others(10): Show HG00140.hp2 HG01175.hp2 HG01516.hp1 HG01884.hp2 HG02698.hp1 HG03942.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18997.hp1 NA19009.hp2 NA19082.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0069 a0001c0001t0002 a0001c0001t0019 a0001c0001t0069	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0028 others(8): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0056 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0019g0084 a0001c0001t0069g0160	13	344	0.0378	19	c.657 others(36): Show c.657-5325_657-5324insATATATATATATATATATA	KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	7/13			chr6	TogoVar
KPNB1_chr17_47644919_47690505	47675361	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0181 a0001c0002t0007g0181	1	384	0.0026	19	c.191 others(36): Show c.1912+589_1912+590insTTTTTTTTTTTTTTTTTTT	KPNB1	ENSG00000108424.11	transcript	ENST00000290158.9	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
KPTN_chr19_47470150_47489219	47478567	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0122 a0001c0005t0001g0122	1	378	0.0027	19	c.788 others(34): Show c.788-805_788-787dupTTTTTTTTTTTTTTTTTTT	KPTN	ENSG00000118162.14	transcript	ENST00000338134.8	protein_coding	8/11			chr19	TogoVar
KRAS_chr12_25200246_25255929	25202063	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	346	0.0029	19	c.78 others(30): Show c.7834_*7852dupTTTTTTTTTTTTTTTTTTT	KRAS	ENSG00000133703.14	transcript	ENST00000256078.10	protein_coding		3182		chr12	TogoVar
KRAS_chr12_25200246_25255929	25249591	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02698.hp2 HG03491.hp1 others(1): Show HG00741.hp2 HG02698.hp2 HG03491.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0023 a0001c0001t0001 a0001c0001t0004 a0001c0001t0023	a0001c0001t0001g0289 a0001c0001t0004g0287 a0001c0001t0004g0288 others(1): Show a0001c0001t0001g0289 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0023g0286	4	346	0.0116	19	c.-12 others(36): Show c.-12+1159_-12+1160insTTTTTTTTTTTTTTTTTTT	KRAS	ENSG00000133703.14	transcript	ENST00000256078.10	protein_coding	1/5			chr12	TogoVar
KRBA1_chr7_149709951_149739575	149714672	T T	TGGGGGCG others(12): Show TGGGGGCGGGGACGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02074.hp1 NA19057.hp2 HG02027.hp2 HG02074.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0005g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0005g0159	3	414	0.0073	19	c.-38 others(28): Show c.-383_-382insGGGGGCGGGGACGAGGGGA	KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding		278		chr7	TogoVar
KRBA1_chr7_149709951_149739575	149738211	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	414	0.0024	19	c.41 others(30): Show c.4164_*4165insAAAAAAAAAAAAAATATAT	KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding		3637		chr7	TogoVar
KRBA1_chr7_149709951_149739575	149738211	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	414	0.0024	19	c.41 others(30): Show c.4164_*4165insAAAAAAAAAAAATATATAT	KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding		3637		chr7	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp2 NA19080.hp1 HG02886.hp2 HG03041.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0104 a0001c0002t0018 a0001c0001t0017 a0001c0001t0104 a0001c0002t0018	a0001c0001t0017g0088 a0001c0001t0104g0095 a0001c0002t0018g0188 a0001c0001t0017g0088 a0001c0001t0104g0095 a0001c0002t0018g0188	3	388	0.0077	19	c.-21 others(34): Show c.-21+944_-21+962dupTTTTTTTTTTTTTTTTTTT	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1			chr17	TogoVar
KRI1_chr19_10548085_10571010	10570547	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG02451.hp1 HG01070.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0001 a0001c0001t0001g0071	2	406	0.0049	19	c.-45 others(30): Show c.-4549_-4548insTTTTTTTTTTTTTTTTTTT	KRI1	ENSG00000129347.21	transcript	ENST00000312962.12	protein_coding		4538		chr19	TogoVar
KRT18_chr12_52944118_52957906	52953837	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA18984.hp1 NA19011.hp1 HG02071.hp2 NA18984.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	406	0.0074	19	c.99 others(28): Show c.995_*996insTTTTTTTTTTTTTTTTTTT	KRT18	ENSG00000111057.11	transcript	ENST00000388835.4	protein_coding		932		chr12	TogoVar
KRT28_chr17_40787196_40804959	40804035	A A	ACCCTTAC others(12): Show ACCCTTACCCCTATATCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0039 a0015c0015t0001g0039	1	466	0.0022	19	c.-41 others(30): Show c.-4143_-4142insAGGGATATAGGGGTAAGGG	KRT28	ENSG00000173908.9	transcript	ENST00000306658.8	protein_coding		4077		chr17	TogoVar
KRT2_chr12_52639558_52657211	52642128	T T	TTCCTGGA others(12): Show TTCCTGGAGGAGGTGAGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	466	0.0022	19	c.28 others(30): Show c.2890_*2891insCAGCTCACCTCCTCCAGGA	KRT2	ENSG00000172867.4	transcript	ENST00000309680.4	protein_coding		2429		chr12	TogoVar
KRT31_chr17_41388721_41402608	41398912	T T	TATATATA others(12): Show TATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02451.hp2 HG03453.hp1 HG01516.hp1 HG02451.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0004 a0001c0006t0004 a0002c0002t0005 a0001c0001t0004 a0001c0006t0004 a0002c0002t0005	a0001c0001t0004g0006 a0001c0006t0004g0017 a0002c0002t0005g0004 a0001c0001t0004g0006 a0001c0006t0004g0017 a0002c0002t0005g0004	3	453	0.0066	19	c.-13 others(30): Show c.-1374_-1373insTATATATATATATATATAT	KRT31	ENSG00000094796.5	transcript	ENST00000251645.3	protein_coding		1305		chr17	TogoVar
KRT3_chr12_52784685_52801117	52786009	A A	AGATAGAT others(12): Show AGATAGATAGATAGATAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG06807.hp2 HG02486.hp2 HG06807.hp2	a0003 a0007 a0003 a0007	a0003c0005 a0007c0008 a0003c0005 a0007c0008	a0003c0005t0001 a0007c0008t0001 a0003c0005t0001 a0007c0008t0001	a0003c0005t0001g0085 a0007c0008t0001g0054 a0003c0005t0001g0085 a0007c0008t0001g0054	2	454	0.0044	19	c.40 others(30): Show c.4032_*4033insATCTATCTATCTATCTATC	KRT3	ENSG00000186442.7	transcript	ENST00000417996.2	protein_coding		3675		chr12	TogoVar
KRT40_chr17_40972715_40989326	40984860	A A	AGTTGTGT others(12): Show AGTTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02602.hp2 HG02970.hp2 others(1): Show HG02451.hp2 HG02602.hp2 HG02970.hp2 HG03139.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0006c0006 a0004c0005 a0006c0006	a0004c0005t0002 a0006c0006t0002 a0004c0005t0002 a0006c0006t0002	a0004c0005t0002g0025 a0004c0005t0002g0033 a0006c0006t0002g0011 a0004c0005t0002g0025 a0004c0005t0002g0033 a0006c0006t0002g0011	4	451	0.0089	19	c.-58 others(28): Show c.-588_-587insACACACACACACACACAAC	KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding		535		chr17	TogoVar
KRT83_chr12_52309301_52326398	52316261	T T	TCACACAC others(12): Show TCACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0057 a0003c0003t0002g0057	1	428	0.0023	19	c.104 others(36): Show c.1042-149_1042-148insGTGTGTGTGTGTGTGTGTG	KRT83	ENSG00000170523.3	transcript	ENST00000293670.3	protein_coding	6/8			chr12	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035715	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	403	0.0025	19	c.51 others(30): Show c.5148_*5149insAAAGAAAGAAAGAAAGAAA	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding		4825		chr17	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035840	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	403	0.0025	19	c.50 others(30): Show c.5023_*5024insGAAAGAAAGAAAGAAAGAA	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding		4700		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035840	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	435	0.0023	19	c.-10 others(30): Show c.-1020_-1019insGAAAGAAAGAAAGAAAGAA	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding		967		chr17	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599134	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	19	c.-14 others(30): Show c.-1488_-1487insCTCTCTCTCTCTCTCTCTC	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		1462		chr21	TogoVar
KRTAP10-9_chr21_44622093_44633378	44630605	A A	AGCAGGAA others(12): Show AGCAGGAAGTGAAGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03540.hp1 HG02723.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0000 a0001c0001t0008g0000	2	472	0.0042	19	c.25 others(30): Show c.2555_*2556insGCAGGAAGTGAAGGGGAGG	KRTAP10-9	ENSG00000221837.7	transcript	ENST00000397911.5	protein_coding		2228		chr21	TogoVar
KRTAP23-1_chr21_30343399_30353606	30348882	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02559.hp2 NA19055.hp1 HG01934.hp2 HG02559.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	422	0.0071	19	c.-27 others(28): Show c.-277_-276insGAGAGAGAGAGAGAGAGAG	KRTAP23-1	ENSG00000186980.7	transcript	ENST00000334160.6	protein_coding		277		chr21	TogoVar
KRTAP24-1_chr21_30276309_30287950	30279860	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01258.hp2 others(20): Show HG01081.hp2 HG01109.hp2 HG01258.hp2 HG01928.hp1 HG01943.hp1 HG01981.hp1 HG02027.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG03486.hp2 HG03834.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18987.hp1 NA19001.hp1 NA19002.hp2 NA19010.hp1 NA19088.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0005 a0001c0001t0001 a0003c0003t0005	a0001c0001t0001g0000 a0003c0003t0005g0000 a0001c0001t0001g0000 a0003c0003t0005g0000	23	452	0.0509	19	c.23 others(30): Show c.2307_*2308insTTTTTTTTTTTTTTTTTTT	KRTAP24-1	ENSG00000188694.6	transcript	ENST00000340345.6	protein_coding		1448		chr21	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583918	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01255.hp1 HG00735.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	2	429	0.0047	19	c.49 others(28): Show c.494_*495insACACACACACACACACACA	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		423		chr11	TogoVar
KRTAP7-1_chr21_30824039_30834759	30825290	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01168.hp2 others(8): Show HG00140.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG02148.hp1 HG02698.hp2 HG02717.hp1 HG03017.hp1 HG06807.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0001g0000 a0001c0001t0005g0000	11	426	0.0258	19	c.41 others(30): Show c.4144_*4145insAAAAAAAAAAAAAAAAAAA	KRTAP7-1	ENSG00000274749.1	transcript	ENST00000621162.1	protein_coding		3748		chr21	TogoVar
KSR1_chr17_27451448_27631435	27579878	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	246	0.0041	19	c.520 others(36): Show c.520+2254_520+2272dupAAAAAAAAAAAAAAAAAAA	KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR2_chr12_117448012_117973990	117452573	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02630.hp1 HG03486.hp1 others(1): Show HG01106.hp1 HG02630.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0027 a0001c0001t0099 a0001c0001t0127 others(1): Show a0001c0001t0027 a0001c0001t0099 a0001c0001t0127 a0001c0003t0128	a0001c0001t0027g0001 a0001c0001t0099g0131 a0001c0001t0127g0120 others(1): Show a0001c0001t0027g0001 a0001c0001t0099g0131 a0001c0001t0127g0120 a0001c0003t0128g0125	4	196	0.0204	19	c.14 others(32): Show c.14625_*14626insAAAAAAAAAAAAAAAAAAA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding		438		chr12	TogoVar
KSR2_chr12_117448012_117973990	117564467	A A	ATGCCCTG others(12): Show ATGCCCTGCCACCCTCATAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01175.hp1 HG01361.hp1 others(11): Show HG01169.hp2 HG01175.hp1 HG01361.hp1 HG02109.hp1 HG02257.hp1 HG02622.hp1 HG02809.hp1 HG02895.hp2 HG03225.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA20300.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0005c0018	a0001c0001t0017 a0001c0001t0019 a0001c0001t0026 others(11): Show a0001c0001t0017 a0001c0001t0019 a0001c0001t0026 a0001c0001t0030 a0001c0001t0095 a0001c0001t0119 a0001c0002t0009 a0001c0002t0017 a0001c0002t0031 a0001c0002t0063 a0001c0002t0074 a0001c0002t0145 a0001c0005t0028 a0005c0018t0008	a0001c0001t0017g0155 a0001c0001t0019g0144 a0001c0001t0026g0002 others(11): Show a0001c0001t0017g0155 a0001c0001t0019g0144 a0001c0001t0026g0002 a0001c0001t0030g0025 a0001c0001t0095g0151 a0001c0001t0119g0150 a0001c0002t0009g0183 a0001c0002t0017g0140 a0001c0002t0031g0005 a0001c0002t0063g0048 a0001c0002t0074g0063 a0001c0002t0145g0193 a0001c0005t0028g0003 a0005c0018t0008g0099	14	196	0.0714	19	c.132 others(38): Show c.1326-5895_1326-5894insCTATGAGGGTGGCAGGGCA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	7/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117686215	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0001 a0001c0001t0027g0001	1	196	0.0051	19	c.987 others(38): Show c.987-18576_987-18558dupAAAAAAAAAAAAAAAAAAA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117791240	C C	CTTCAGGA others(12): Show CTTCAGGAGCTTGCTTCCTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0045 a0001c0003t0060g0045	1	196	0.0051	19	c.473 others(38): Show c.473-29735_473-29717dupCAGGAAGCAAGCTCCTGAA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117812842	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0047 a0001c0003t0138 a0001c0001t0047 a0001c0003t0138	a0001c0001t0047g0007 a0001c0003t0138g0134 a0001c0001t0047g0007 a0001c0003t0138g0134	2	196	0.0102	19	c.472 others(38): Show c.472+42585_472+42586insTTTTTTTTTTTTTTTTTTT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117947196	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0146 a0001c0003t0004g0146	1	196	0.0051	19	c.180 others(38): Show c.180+20879_180+20880insCTTTCTTTCTTTCTTTCTT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117971094	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG06807.hp1 others(1): Show HG02257.hp1 HG02572.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0125 a0001c0002t0017 a0001c0003t0118 others(1): Show a0001c0001t0125 a0001c0002t0017 a0001c0003t0118 a0001c0006t0016	a0001c0001t0125g0174 a0001c0002t0017g0140 a0001c0003t0118g0172 others(1): Show a0001c0001t0125g0174 a0001c0002t0017g0140 a0001c0003t0118g0172 a0001c0006t0016g0081	4	196	0.0204	19	c.-28 others(30): Show c.-2840_-2839insTTTTTTTTTTTTTTTTTTT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding		2105		chr12	TogoVar
KYAT1_chr9_128827942_128886950	128865359	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	326	0.0031	19	c.-7+ others(36): Show c.-7+16537_-7+16538insAAAAAAAAATATATATATA	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
KYAT1_chr9_128827942_128886950	128865359	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	326	0.0031	19	c.-7+ others(36): Show c.-7+16537_-7+16538insAAAAAAAAAAAAAAATATA	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
KYAT3_chr1_88930779_88997629	88987600	A A	ATATGCAC others(12): Show ATATGCACACTACCCAGATT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0042 a0005c0007t0001g0042	1	312	0.0032	19	c.99+ others(32): Show c.99+633_99+651dupAATCTGGGTAGTGTGCATA	KYAT3	ENSG00000137944.18	transcript	ENST00000260508.9	protein_coding	2/13			chr1	TogoVar
L1TD1_chr1_62189849_62217328	62197397	T T	TTTATATA others(12): Show TTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19056.hp2 NA18962.hp1 NA19056.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0363 a0002c0007t0009g0364 a0002c0007t0009g0363 a0002c0007t0009g0364	2	414	0.0048	19	c.-11 others(36): Show c.-111+870_-111+871insTATATATATATATATATAT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L1TD1_chr1_62189849_62217328	62205443	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02615.hp1 HG03704.hp2 HG00738.hp1 HG02615.hp1 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0194 a0002c0002t0003g0041 a0002c0002t0003g0254 a0002c0002t0001g0194 a0002c0002t0003g0041 a0002c0002t0003g0254	3	414	0.0073	19	c.-11 others(38): Show c.-110-1067_-110-1066insTTTTTTTTTTTTTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L3MBTL4_chr18_5949717_6419911	6072881	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp2 HG02976.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0057 a0001c0001t0007g0016 a0001c0001t0005g0057 a0001c0001t0007g0016	2	94	0.0213	19	c.144 others(38): Show c.1444+7999_1444+8000insATTTTTTTTTTTTTTTTTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6292881	A A	ACCCTCTG others(12): Show ACCCTCTGCCATCACTCTGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00673.hp2 others(18): Show HG00558.hp2 HG00639.hp1 HG00673.hp2 HG01243.hp2 HG01981.hp2 HG02080.hp2 HG02257.hp2 HG02486.hp1 HG02622.hp1 HG02809.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03834.hp1 NA18975.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0004t0006 a0002c0002t0001	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0017 others(18): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0072 a0001c0001t0003g0011 a0001c0001t0003g0031 a0001c0001t0005g0094 a0001c0004t0006g0074 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0032 a0002c0002t0001g0038 a0002c0002t0001g0068 a0002c0002t0001g0078 a0002c0002t0001g0091	21	94	0.2234	19	c.127 others(36): Show c.127+9021_127+9022insGCAGAGTGATGGCAGAGGG	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
LACC1_chr13_43874904_43898932	43879809	G G	GAGGCGAG others(12): Show GAGGCGAGGCGGGGCGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA18957.hp1 NA19057.hp1 HG00609.hp1 NA18957.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0063 a0002c0002t0001g0030 a0002c0002t0001g0063	3	456	0.0066	19	c.-34 others(28): Show c.-345_-344insAGGCGAGGCGGGGCGAGGT	LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding		94		chr13	TogoVar
LAMA2_chr6_128878138_129521566	129055176	T T	TTTATTAT others(12): Show TTTATTATTATTTATTATTA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0002 a0002c0026t0002	a0002c0026t0002g0016 a0002c0026t0002g0016	1	88	0.0114	19	c.284 others(36): Show c.284-4597_284-4596insTATTATTATTATTATTATT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	2/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129066038	G G	GTATGTCT others(12): Show GTATGTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(12): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00609.hp2 HG01192.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG04204.hp2 NA18946.hp2 NA18973.hp1 NA18979.hp2 NA19060.hp2 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0016 a0017 a0018 a0022 a0033	a0001c0001 a0001c0011 a0001c0040 others(11): Show a0001c0001 a0001c0011 a0001c0040 a0001c0049 a0002c0054 a0003c0039 a0003c0041 a0005c0009 a0005c0050 a0016c0024 a0017c0038 a0018c0036 a0022c0025 a0033c0013	a0001c0001t0001 a0001c0011t0001 a0001c0040t0002 others(11): Show a0001c0001t0001 a0001c0011t0001 a0001c0040t0002 a0001c0049t0001 a0002c0054t0004 a0003c0039t0001 a0003c0041t0004 a0005c0009t0002 a0005c0050t0001 a0016c0024t0004 a0017c0038t0001 a0018c0036t0003 a0022c0025t0001 a0033c0013t0002	a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0011t0001g0040 others(12): Show a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0011t0001g0040 a0001c0040t0002g0080 a0001c0049t0001g0042 a0002c0054t0004g0049 a0003c0039t0001g0046 a0003c0041t0004g0059 a0005c0009t0002g0053 a0005c0050t0001g0060 a0016c0024t0004g0055 a0017c0038t0001g0071 a0018c0036t0003g0088 a0022c0025t0001g0029 a0033c0013t0002g0031	15	88	0.1705	19	c.396 others(36): Show c.396+6143_396+6144insATGTCTTTTTTTTTTTTTT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	3/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA3_chr18_23684453_23960066	23687767	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0233 a0001c0005t0001g0233	1	280	0.0036	19	c.-19 others(30): Show c.-1917_-1916insGTGTGTGTGTGTGTGTGTG	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding		1685		chr18	TogoVar

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