Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CTNND2_chr5_10966836_11909446	11558341	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	26	0.0385	-10	c.287 others(27): Show c.287+6593_287+6602delACACACACAC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11623808	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	26	0.0385	-10	c.175 others(29): Show c.175-58762_175-58753delTATATATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11653070	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	26	0.0385	-10	c.174 others(29): Show c.174+79056_174+79065delACACACACAC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11690742	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG03130.hp2 others(5): Show HG02258.hp1 HG02647.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0002 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0006t0002g0025 a0002c0008t0001g0014	8	26	0.3077	-10	c.174 others(29): Show c.174+41384_174+41393delTTTTTTTTTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11719833	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02647.hp2 others(10): Show HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0002 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0006t0002g0025 a0001c0009t0001g0008 a0002c0008t0001g0014	13	26	0.5000	-10	c.174 others(29): Show c.174+12293_174+12302delGTGTGTGTGT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11744675	GTGTGTGT others(3): Show GTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	26	0.0385	-10	c.38- others(27): Show c.38-12413_38-12404delAACACACACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11747332	CAGAATAA others(3): Show CAGAATAAAAG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	26	0.0385	-10	c.38- others(27): Show c.38-15070_38-15061delCTTTTATTCT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11816687	GAGAGGGG others(3): Show GAGAGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0002t0001g0006 a0001c0001t0001g0012 a0001c0002t0001g0006	2	26	0.0769	-10	c.38- others(27): Show c.38-84425_38-84416delTCCCCCCTCT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11816909	AGAGAGAG others(3): Show AGAGAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0025 a0001c0006t0002g0025	1	26	0.0385	-10	c.38- others(27): Show c.38-84647_38-84638delCTCCTCTCTC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTPS1_chr1_40974696_41017565	40993774	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	388	0.0026	-10	c.720 others(27): Show c.720+1942_720+1951delTTTTTTTTTT	CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTPS1_chr1_40974696_41017565	41000215	ATGTTTTG others(3): Show ATGTTTTGTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02258.hp2 HG02572.hp2 others(8): Show HG00323.hp2 HG02258.hp2 HG02572.hp2 HG02622.hp1 HG02735.hp1 HG02922.hp2 HG03486.hp1 HG06807.hp1 NA18522.hp2 NA19067.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0001c0001t0001 a0001c0001t0003 a0001c0009t0001	a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0133 a0001c0001t0001g0231 a0001c0001t0003g0241 a0001c0009t0001g0113	11	388	0.0284	-10	c.100 others(27): Show c.1006-778_1006-769delTGTTTTGTTT	CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTPS2_chrX_16582999_16717669	16672881	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp1 HG02630.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0218 a0001c0002t0002g0075 a0001c0002t0002g0218	2	226	0.0089	-10	c.109 others(29): Show c.1095-2217_1095-2208delAAAAAAAAAA	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	10/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16713074	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	226	0.0044	-10	c.-78 others(19): Show c.-789_-780delAAAAAAAAAA	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding		406		chrX	TogoVar
CTR9_chr11_10746246_10784746	10771226	TGCCTGGT others(3): Show TGCCTGGTAAA	T T	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	406	0.0025	-10	c.237 others(27): Show c.2373-318_2373-309delGCCTGGTAAA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding	18/24			chr11	TogoVar
CTRC_chr1_15433443_15454242	15435478	CGTGTGTG others(3): Show CGTGTGTGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	428	0.0023	-10	c.-29 others(21): Show c.-2986_-2977delGTGTGTGCAT	CTRC	ENSG00000162438.12	transcript	ENST00000375949.5	protein_coding		2964		chr1	TogoVar
CTSA_chr20_45886335_45903820	45889348	CTTTTCTT others(3): Show CTTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG03098.hp1 HG01884.hp2 HG02922.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	3	430	0.0070	-10	c.-20 others(21): Show c.-2031_-2022delTTTTCTTTCT	CTSA	ENSG00000064601.21	transcript	ENST00000646241.3	protein_coding		1986		chr20	TogoVar
CTSB_chr8_11837524_11873087	11839668	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA19030.hp2 HG02622.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0029 a0002c0002t0006 a0001c0004t0029 a0002c0002t0006	a0001c0004t0029g0378 a0002c0002t0006g0173 a0001c0004t0029g0378 a0002c0002t0006g0173	2	438	0.0046	-10	c.54 others(21): Show c.5447_*5456delTTTTTTTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding		2855		chr8	TogoVar
CTSC_chr11_88288592_88342736	88290844	CATATATA others(3): Show CATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02257.hp2 NA18951.hp1 others(3): Show HG00639.hp2 HG02257.hp2 NA18951.hp1 NA19057.hp2 NA19058.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0006t0001g0089	6	434	0.0138	-10	c.31 others(21): Show c.3152_*3161delATATATATAT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2747		chr11	TogoVar
CTSC_chr11_88288592_88342736	88291346	AAGAAGGA others(3): Show AAGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02647.hp1 others(7): Show HG02145.hp2 HG02280.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0060 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0122 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0170	10	434	0.0230	-10	c.26 others(21): Show c.2650_*2659delCCTTCCTTCT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2245		chr11	TogoVar
CTSC_chr11_88288592_88342736	88309810	GCGCGCAC others(3): Show GCGCGCACACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02886.hp2 others(2): Show HG02055.hp2 HG02109.hp2 HG02886.hp2 HG03453.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0022 a0002c0002t0001g0311 a0002c0002t0001g0312	5	434	0.0115	-10	c.486 others(25): Show c.486-502_486-493delTGTGTGCGCG	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	3/6			chr11	TogoVar
CTSC_chr11_88288592_88342736	88336419	ATCCTAGC others(3): Show ATCCTAGCTAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02886.hp2 others(2): Show HG02055.hp2 HG02109.hp2 HG02886.hp2 HG03453.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0022 a0002c0002t0001g0311 a0002c0002t0001g0312	5	434	0.0115	-10	c.172 others(27): Show c.172+1072_172+1081delGTAGCTAGGA	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	1/6			chr11	TogoVar
CTSD_chr11_1747755_1768927	1754736	TGGAGGGG others(3): Show TGGAGGGGCAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	386	0.0026	-10	c.827 others(25): Show c.827+160_827+169delTTGCCCCTCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSE_chr1_206004264_206028895	206008654	GGTTTTAT others(3): Show GGTTTTATCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0081 a0005c0009t0001g0081	1	302	0.0033	-10	c.15 others(21): Show c.1519_*1528delAAGATAAAAC	CTSE	ENSG00000196188.12	transcript	ENST00000358184.7	protein_coding		609		chr1	TogoVar
CTSE_chr1_206004264_206028895	206019749	ACATAATA others(3): Show ACATAATATAT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	302	0.0033	-10	c.462 others(27): Show c.462+1290_462+1299delATATATTATG	CTSE	ENSG00000196188.12	transcript	ENST00000358184.7	protein_coding	4/8			chr1	TogoVar
CTSG_chr14_24568518_24581250	24570940	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18946.hp1 NA18967.hp1 others(9): Show NA18939.hp2 NA18946.hp1 NA18967.hp1 NA18989.hp1 NA18992.hp2 NA19002.hp2 NA19012.hp1 NA19065.hp1 NA19072.hp2 NA19075.hp1 NA19083.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0002 a0001c0001t0001g0014	12	440	0.0273	-10	c.26 others(21): Show c.2687_*2696delACACACACAC	CTSG	ENSG00000100448.4	transcript	ENST00000216336.3	protein_coding		2577		chr14	TogoVar
CTSH_chr15_78916058_78950046	78928585	AAAAAGAA others(3): Show AAAAAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	414	0.0024	-10	c.631 others(25): Show c.631-814_631-805delCCCTTCTTTT	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	8/11			chr15	TogoVar
CTSH_chr15_78916058_78950046	78937617	TGGCCAGA others(3): Show TGGCCAGAATG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00733.hp2 others(44): Show HG00280.hp1 HG00323.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp2 HG02572.hp2 HG02602.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18906.hp2 NA18964.hp1 NA18984.hp2 NA18988.hp1 NA19030.hp1 NA19054.hp2 NA19063.hp2 NA19081.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0013 a0002c0006 others(2): Show a0001c0002 a0001c0013 a0002c0006 a0003c0004 a0005c0007	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(9): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0013t0002 a0002c0006t0002 a0002c0006t0017 a0003c0004t0001 a0003c0004t0004 a0003c0004t0005 a0003c0004t0007 a0003c0004t0009 a0005c0007t0001	a0001c0002t0001g0103 a0001c0002t0001g0245 a0001c0002t0001g0247 others(42): Show a0001c0002t0001g0103 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0254 a0001c0002t0003g0248 a0001c0002t0005g0085 a0001c0002t0005g0231 a0001c0002t0005g0244 a0001c0002t0005g0246 a0001c0002t0005g0253 a0001c0013t0002g0342 a0002c0006t0002g0032 a0002c0006t0002g0267 a0002c0006t0002g0268 a0002c0006t0002g0269 a0002c0006t0017g0041 a0003c0004t0001g0044 a0003c0004t0004g0046 a0003c0004t0004g0047 a0003c0004t0004g0053 a0003c0004t0004g0060 a0003c0004t0004g0061 a0003c0004t0005g0014 a0003c0004t0005g0042 a0003c0004t0005g0049 a0003c0004t0005g0050 a0003c0004t0005g0054 a0003c0004t0005g0055 a0003c0004t0005g0058 a0003c0004t0005g0059 a0003c0004t0005g0062 a0003c0004t0007g0043 a0003c0004t0007g0048 a0003c0004t0007g0051 a0003c0004t0007g0052 a0003c0004t0007g0056 a0003c0004t0007g0057 a0003c0004t0009g0045 a0005c0007t0001g0063 a0005c0007t0001g0064 a0005c0007t0001g0065 a0005c0007t0001g0066 a0005c0007t0001g0067	47	414	0.1135	-10	c.124 others(25): Show c.124-204_124-195delCATTCTGGCC	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	2/11			chr15	TogoVar
CTSK_chr1_150791208_150813260	150805638	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG03195.hp2 HG02809.hp1 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0159 a0001c0001t0001g0045 a0001c0001t0001g0159	3	392	0.0077	-10	c.399 others(25): Show c.399+213_399+222delTTTTTTTTTT	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	4/7			chr1	TogoVar
CTSK_chr1_150791208_150813260	150807074	TCTCTCTC others(3): Show TCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01928.hp2 HG01934.hp2 others(3): Show HG01255.hp1 HG01928.hp2 HG01934.hp2 HG02293.hp1 NA18948.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0090 a0001c0001t0001g0016 a0001c0001t0001g0090	6	392	0.0153	-10	c.-1- others(23): Show c.-1-278_-1-269delTGTGAGAGAG	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTSK_chr1_150791208_150813260	150807078	TCTCACAC others(3): Show TCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01928.hp1 others(11): Show HG00438.hp2 HG00621.hp2 HG01928.hp1 HG02071.hp2 HG02523.hp2 HG03490.hp2 HG03492.hp1 HG06807.hp2 NA18968.hp2 NA18970.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0066 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	14	392	0.0357	-10	c.-1- others(23): Show c.-1-282_-1-273delTGTGTGTGAG	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTSK_chr1_150791208_150813260	150807080	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG02970.hp2 others(2): Show HG02630.hp2 HG02886.hp1 HG02970.hp2 NA18964.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065	5	392	0.0128	-10	c.-1- others(23): Show c.-1-284_-1-275delTGTGTGTGTG	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTSK_chr1_150791208_150813260	150809634	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00735.hp1 others(37): Show HG00140.hp2 HG00323.hp2 HG00735.hp1 HG01074.hp2 HG01109.hp1 HG01891.hp1 HG01928.hp2 HG02258.hp2 HG02647.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18974.hp1 NA18978.hp1 NA18984.hp2 NA18989.hp1 NA19005.hp1 NA19006.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(21): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186	40	392	0.1020	-10	c.-14 others(21): Show c.-1432_-1423delTTTTTTTTTT	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding		1375		chr1	TogoVar
CTSK_chr1_150791208_150813260	150809968	ACACAATG others(3): Show ACACAATGTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG03453.hp2 HG02145.hp2 HG02615.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0100 a0001c0001t0001g0146 a0001c0001t0001g0148	3	392	0.0077	-10	c.-17 others(21): Show c.-1766_-1757delGCACATTGTG	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding		1709		chr1	TogoVar
CTSL_chr9_87721119_87736469	87734804	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01081.hp1 others(12): Show HG00639.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01358.hp1 HG02257.hp2 HG02723.hp1 HG02886.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03516.hp2 NA19007.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0047	15	388	0.0387	-10	c.36 others(21): Show c.3698_*3707delTTTTTTTTTT	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding		3336		chr9	TogoVar
CTSS_chr1_150725188_150770778	150726447	TACACACA others(3): Show TACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG02109.hp2 others(12): Show HG00099.hp1 HG00323.hp2 HG02109.hp2 HG02615.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG06807.hp1 NA18947.hp1 NA18953.hp2 NA19000.hp2 NA19043.hp2 NA19084.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0145 others(11): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0145 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0003g0035 a0001c0001t0003g0213 a0001c0001t0003g0238 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277	15	344	0.0436	-10	c.65 others(21): Show c.6589_*6598delGTGTGTGTGT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		3740		chr1	TogoVar
CTSS_chr1_150725188_150770778	150768750	ACAGGTGT others(3): Show ACAGGTGTGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	344	0.0029	-10	c.-30 others(21): Show c.-3064_-3055delCTCACACCTG	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		2973		chr1	TogoVar
CTSV_chr9_97024677_97044142	97039814	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02895.hp1 NA19240.hp2 HG02615.hp1 HG02895.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0021 a0001c0001t0011g0021	3	410	0.0073	-10	c.-76 others(19): Show c.-764_-755delTTTTTTTTTT	CTSV	ENSG00000136943.12	transcript	ENST00000259470.6	protein_coding		673		chr9	TogoVar
CTSW_chr11_65874837_65888741	65883936	ACTTTATT others(3): Show ACTTTATTGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	366	0.0027	-10	c.31 others(19): Show c.319_*328delCTTTATTGTC	CTSW	ENSG00000172543.9	transcript	ENST00000307886.8	protein_coding		196		chr11	TogoVar
CTSZ_chr20_58990185_59012254	59005045	TCTTTCAC others(3): Show TCTTTCACTTC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	436	0.0023	-10	c.307 others(27): Show c.307+1267_307+1276delGAAGTGAAAG	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	2/5			chr20	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112425956	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0293 a0001c0002t0004g0293	1	324	0.0031	-10	c.99+ others(25): Show c.99+9731_99+9740delGTGTGTGTGT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112425995	GTGTGTGT others(3): Show GTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG00733.hp1 others(15): Show HG00558.hp2 HG00673.hp1 HG00733.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01975.hp2 HG01978.hp1 HG02148.hp1 HG02273.hp2 HG04199.hp1 HG04199.hp2 NA18941.hp1 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA19003.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0021 a0001c0002t0025 a0001c0002t0002 a0001c0002t0021 a0001c0002t0025	a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0040 others(14): Show a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0040 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0091 a0001c0002t0002g0107 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0021g0003 a0001c0002t0025g0067	18	324	0.0556	-10	c.99+ others(25): Show c.99+9735_99+9744delGTGTGTCTGT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112428103	TCACACAC others(3): Show TCACACACATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG02976.hp1 HG02622.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0284 a0001c0009t0012g0285 a0001c0009t0012g0286 a0001c0009t0012g0284 a0001c0009t0012g0285 a0001c0009t0012g0286	3	324	0.0093	-10	c.99+ others(27): Show c.99+11850_99+11859delCACACACATA	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112430167	CTTTCTTT others(3): Show CTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02165.hp2 HG02723.hp2 others(14): Show HG01433.hp2 HG02165.hp2 HG02723.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18980.hp1 NA18983.hp2 NA18995.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 a0001c0001 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0007t0015 a0002c0004t0007	a0001c0001t0001g0025 a0001c0001t0001g0158 a0001c0001t0001g0162 others(14): Show a0001c0001t0001g0025 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0314 a0001c0001t0003g0250 a0001c0001t0004g0277 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0007t0015g0156 a0002c0004t0007g0295	17	324	0.0525	-10	c.99+ others(27): Show c.99+13950_99+13959delTTCTTTTCTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112430214	TTCTTTTC others(3): Show TTCTTTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0284 a0001c0009t0012g0284	1	324	0.0031	-10	c.99+ others(27): Show c.99+13959_99+13968delTGTCTTTTCT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112432066	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02723.hp1 others(2): Show HG02109.hp1 HG02630.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1	a0003 a0003	a0003c0006 a0003c0013 a0003c0006 a0003c0013	a0003c0006t0011 a0003c0006t0016 a0003c0013t0016 a0003c0006t0011 a0003c0006t0016 a0003c0013t0016	a0003c0006t0011g0137 a0003c0006t0011g0151 a0003c0006t0011g0154 others(2): Show a0003c0006t0011g0137 a0003c0006t0011g0151 a0003c0006t0011g0154 a0003c0006t0016g0014 a0003c0013t0016g0013	5	324	0.0154	-10	c.99+ others(27): Show c.99+15818_99+15827delTTTTTTTTTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112447272	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	324	0.0031	-10	c.100 others(27): Show c.100-1654_100-1645delAAAAAAAAAA	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117709520	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03491.hp2 NA18969.hp1 HG03017.hp2 HG03491.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0101 a0001c0001t0001g0133 a0001c0001t0001g0144	3	164	0.0183	-10	c.20 others(21): Show c.2007_*2016delTTTTTTTTTT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding		1130		chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117732467	GGTGAAAC others(3): Show GGTGAAACCCC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02451.hp2 others(6): Show HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0050 others(6): Show a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0108 a0001c0006t0001g0079	9	164	0.0549	-10	c.387 others(29): Show c.3876+2436_3876+2445delGGGGTTTCAC	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	16/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117773648	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02895.hp2 others(4): Show HG02258.hp1 HG02258.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0053 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0007t0001g0011	7	164	0.0427	-10	c.277 others(29): Show c.2778+3853_2778+3862delGTGTGTGTGT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	8/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117819367	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG03041.hp2 HG02451.hp1 HG02970.hp2 HG03041.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0012 a0001c0001 a0001c0004 a0008c0012	a0001c0001t0002 a0001c0004t0001 a0008c0012t0002 a0001c0001t0002 a0001c0004t0001 a0008c0012t0002	a0001c0001t0002g0006 a0001c0004t0001g0007 a0008c0012t0002g0056 a0001c0001t0002g0006 a0001c0004t0001g0007 a0008c0012t0002g0056	3	164	0.0183	-10	c.190 others(27): Show c.190-8388_190-8379delTGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	2/22			chr7	TogoVar

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