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
CTDP1_chr18_79674803_79759503	79746210	T T	TGCCTGCG others(21): Show TGCCTGCGTCCCTCCCGTGCGCGTTCTGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18979.hp2 HG02074.hp2 NA18979.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0301 a0004c0004t0001g0310 a0004c0004t0001g0301 a0004c0004t0001g0310	2	362	0.0055	28	c.274 others(47): Show c.2748-7442_2748-7441insGCCTGCGTCCCTCCCGTGCGCGTTCT GA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12			chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746322	T T	TCCCCGCG others(21): Show TCCCCGCGTCCCTCCCGTGCGCGTTGTGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02683.hp2 NA20905.hp2 HG01074.hp2 HG02683.hp2 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0011 a0004c0004t0003 a0004c0004t0011	a0004c0004t0003g0329 a0004c0004t0003g0333 a0004c0004t0011g0326 a0004c0004t0003g0329 a0004c0004t0003g0333 a0004c0004t0011g0326	3	294	0.0102	28	c.274 others(47): Show c.2748-7306_2748-7305insGTGACCCCGCGTCCCTCCCGTGCGCG TT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746344	G G	GTTCTGAC others(21): Show GTTCTGACCCCGCGTCCCTCCCGTGCGCA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0313 a0004c0004t0001g0313	1	368	0.0027	28	c.274 others(47): Show c.2748-7299_2748-7298insCGCGTCCCTCCCGTGCGCATTCTGAC CC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDSP1_chr2_218394868_218410941	218400921	T T	TGGCTGCC others(21): Show TGGCTGCCCCGGAACTGAGGGCAAGGTGG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	422	0.0024	28	c.68- others(41): Show c.68-642_68-615dupGGCTGCCCCGGAACTGAGGGCAAGGTGG	CTDSP1	ENSG00000144579.9	transcript	ENST00000273062.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDSPL_chr3_37856880_37989469	37877680	C C	CTATAAAG others(21): Show CTATAAAGGAATACCTGAGATGGGTAATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp2 HG02258.hp1 others(13): Show HG00741.hp1 HG02257.hp2 HG02258.hp1 HG02630.hp1 HG02698.hp1 HG02895.hp1 HG02896.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0029	a0001c0001t0001g0051 a0001c0001t0003g0001 a0001c0001t0004g0056 others(12): Show a0001c0001t0001g0051 a0001c0001t0003g0001 a0001c0001t0004g0056 a0001c0001t0005g0054 a0001c0001t0005g0057 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0013g0046 a0001c0001t0014g0059 a0001c0001t0014g0060 a0001c0001t0016g0055 a0001c0001t0016g0058 a0001c0001t0029g0053	16	164	0.0976	28	c.79+ others(45): Show c.79+15409_79+15410insGAATACCTGAGATGGGTAATTTATAAAG	CTDSPL	ENSG00000144677.15	transcript	ENST00000273179.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNNA1_chr5_138748425_138940034	138852859	T T	TCGCGCGC others(21): Show TCGCGCGCGCGCACGCGCACACACACACA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	70	0.0143	28	c.106 others(49): Show c.1062+25152_1062+25153insACGCGCACACACACACACGCGCGC GCGC	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138852871	G G	GCACGCGC others(21): Show GCACGCGCACACACACACGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20905.hp1 HG00642.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0129 a0001c0001t0001g0137	2	65	0.0308	28	c.106 others(49): Show c.1062+25156_1062+25157insGCGCACACACACACGCGCGCGCGC ACAC	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138852871	G G	GCGCGCGC others(21): Show GCGCGCGCACACACACACGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	64	0.0156	28	c.106 others(49): Show c.1062+25154_1062+25155insGCGCGCACACACACACGCGCGCGC GCAC	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79818821	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0020 a0002c0006t0001g0020	1	13	0.0769	28	c.299 others(47): Show c.299-39191_299-39190insTTATATATATATATATATATATATAT AT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559891	T T	TTTATATA others(21): Show TTTATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG03688.hp2 HG02145.hp1 HG02258.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0011 a0001c0001t0001g0050 a0001c0016t0001g0045 a0001c0001t0001g0011 a0001c0001t0001g0050 a0001c0016t0001g0045	3	50	0.0600	28	c.174 others(47): Show c.1741+3998_1741+3999insTTATATATATATATATATATATATAC AC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18			chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559891	T T	TTTTTATA others(21): Show TTTTTATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18995.hp1 HG02148.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0002t0001g0064 a0001c0001t0001g0010 a0001c0002t0001g0064	2	49	0.0408	28	c.174 others(47): Show c.1741+3998_1741+3999insTTTTATATATATATATATATATATAC AC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18			chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80569633	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	6	0.1667	28	c.174 others(47): Show c.1742-4503_1742-4502insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66021852	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02145.hp2 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0007 a0003c0009t0003 a0001c0001t0007 a0003c0009t0003	a0001c0001t0007g0020 a0003c0009t0003g0036 a0001c0001t0007g0020 a0003c0009t0003g0036	2	16	0.1250	28	c.216 others(49): Show c.2160-33056_2160-33055insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66154719	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19080.hp1 HG06807.hp2 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0013 a0002c0002t0003g0039 a0002c0002t0002g0013 a0002c0002t0003g0039	2	9	0.2222	28	c.188 others(49): Show c.1885-51471_1885-51470insATATATATATATATATATATATAT ATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66189600	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	30	0.0333	28	c.188 others(49): Show c.1885-86352_1885-86351insTATATATATATATATATATATATA TATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0009	a0001c0011t0009g0017 a0001c0011t0009g0017	1	9	0.1111	28	c.153 others(49): Show c.1532-42546_1532-42545insATATATATATATATATATATATAT ATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66845707	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03195.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0009 a0001c0005t0010 a0001c0007t0015 a0001c0001t0009 a0001c0005t0010 a0001c0007t0015	a0001c0001t0009g0030 a0001c0005t0010g0029 a0001c0007t0015g0016 a0001c0001t0009g0030 a0001c0005t0010g0029 a0001c0007t0015g0016	3	42	0.0714	28	c.104 others(49): Show c.1048-70184_1048-70183insATTTATTTATTTATTTATTTATTT ATTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66978546	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	42	0.0238	28	c.104 others(51): Show c.1047+201770_1047+201771insATATATATATATATATATATAT ATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TATATATA others(21): Show TATATATATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	12	0.0833	28	c.104 others(49): Show c.1047+46988_1047+46989insGTATAAATATATATATATATATAT ATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67143425	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0005 a0001c0004t0007g0005	1	10	0.1000	28	c.104 others(49): Show c.1047+36891_1047+36892insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0003 a0001c0001t0016g0003	1	4	0.2500	28	c.293 others(47): Show c.293-26402_293-26375dupTATATATATATATATATATATATATA TA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566058	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0042	1	44	0.0227	28	c.293 others(47): Show c.293-26390_293-26389insGTATATATATATATATATATATATAT AT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNND2_chr5_10966836_11909446	11376322	G G	GTGCGTGT others(21): Show GTGCGTGTGTGTGTGTGTGTTCATGTATC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0004 a0001c0001t0001g0022	2	8	0.2500	28	c.117 others(47): Show c.1177+8342_1177+8343insGATACATGAACACACACACACACACG CA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11662150	T T	TATATATG others(21): Show TATATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	24	0.0417	28	c.174 others(47): Show c.174+69958_174+69985dupGTATATATACACATATATACACATAT AT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11662177	A A	ACATATAT others(21): Show ACATATATGTGTATATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp2 HG03209.hp2 others(5): Show HG02647.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0021 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0002t0001g0006 a0001c0002t0001g0016 a0001c0006t0002g0025 a0001c0009t0001g0008 a0002c0008t0001g0014	8	24	0.3333	28	c.174 others(47): Show c.174+69931_174+69958dupCATATATACACATATATACACATATA TG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11662188	T T	TATATATG others(21): Show TATATATGTGTATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	24	0.0417	28	c.174 others(47): Show c.174+69920_174+69947dupGTATATATATACATATATACACATAT AT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11662263	G G	GTATATAT others(21): Show GTATATATATACATATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	23	0.0435	28	c.174 others(47): Show c.174+69872_174+69873insTATATACACATATATATGTATATATA TA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11879339	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02922.hp1 HG00738.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0012 a0001c0001t0001g0023	2	7	0.2857	28	c.37+ others(45): Show c.37+24477_37+24478insTATATATATATATATATATATATATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635193	T T	TGAAGGAA others(21): Show TGAAGGAAGGAAGAAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 NA18999.hp2 NA19240.hp2 HG01258.hp1 NA18999.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0060 a0001c0001t0077 a0001c0003t0016 a0001c0001t0060 a0001c0001t0077 a0001c0003t0016	a0001c0001t0060g0052 a0001c0001t0077g0074 a0001c0003t0016g0185 a0001c0001t0060g0052 a0001c0001t0077g0074 a0001c0003t0016g0185	3	284	0.0106	28	c.-18 others(39): Show c.-1868_-1867insGAAGGAAGGAAGAAAGGAAGGAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1566		chr17	TogoVar
CTNS_chr17_3631760_3668103	3635246	G G	GAGGGAAG others(21): Show GAGGGAAGGAAGGAAGGGAAGGAAGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	368	0.0027	28	c.-18 others(39): Show c.-1815_-1814insAGGGAAGGAAGGAAGGGAAGGAAGGGAA	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1513		chr17	TogoVar
CTNS_chr17_3631760_3668103	3641359	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0173 a0001c0001t0007g0173	1	252	0.0040	28	c.61+ others(43): Show c.61+1118_61+1119insATATATATATATATATATATATATATAT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS2_chrX_16582999_16717669	16661993	C C	CATATATA others(21): Show CATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01167.hp1 HG01169.hp2 others(1): Show HG00438.hp1 HG01167.hp1 HG01169.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0169 a0001c0001t0001g0171 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0214	4	168	0.0238	28	c.129 others(47): Show c.1296+5520_1296+5521insATATATATATATATATATGTATATAT AT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTR9_chr11_10746246_10784746	10747332	T T	TATATAAA others(21): Show TATATAAATATATATTATATATTATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02809.hp2 HG03041.hp1 others(3): Show HG00741.hp2 HG02809.hp2 HG03041.hp1 HG03453.hp1 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0002g0025 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0002g0025	6	264	0.0227	28	c.-40 others(39): Show c.-4081_-4080insATATAAATATATATTATATATTATATAA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3913		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747355	A A	ATATATTT others(21): Show ATATATTTATATTATATATAAAATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18961.hp2 NA18966.hp2 others(3): Show NA18953.hp1 NA18961.hp2 NA18966.hp2 NA19001.hp2 NA19070.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0120 a0001c0002t0001g0145 a0001c0002t0001g0008 a0001c0002t0001g0120 a0001c0002t0001g0145	6	306	0.0196	28	c.-40 others(39): Show c.-4058_-4057insTATATTTATATTATATATAAAATATAAT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3890		chr11	TogoVar
CTSC_chr11_88288592_88342736	88291542	G G	GAAGGAGA others(21): Show GAAGGAGAGAGAGAGATGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA20129.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0227 a0001c0001t0001g0028 a0001c0001t0001g0227	2	298	0.0067	28	c.24 others(39): Show c.2463_*2464insTTTCTTTCTTTCATCTCTCTCTCTCCTT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2049		chr11	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(21): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02004.hp2 HG02647.hp2 others(5): Show HG01070.hp1 HG02004.hp2 HG02647.hp2 HG03225.hp2 HG03540.hp1 HG03688.hp1 NA18967.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0052 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0126 a0002c0002t0001g0004	8	37	0.2162	28	c.24 others(39): Show c.2409_*2436dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSD_chr11_1747755_1768927	1764940	A A	ATGTGTAT others(21): Show ATGTGTATATATATATACACACACGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG03239.hp1 HG00738.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0014 a0001c0001t0003 a0001c0005t0014	a0001c0001t0003g0067 a0001c0005t0014g0160 a0001c0001t0003g0067 a0001c0005t0014g0160	2	384	0.0052	28	c.-10 others(39): Show c.-1082_-1081insCATACGTGTGTGTATATATATATACACA	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		1014		chr11	TogoVar
CTSK_chr1_150791208_150813260	150807005	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	248	0.0040	28	c.-1- others(41): Show c.-1-200_-1-199insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744580	T T	TATTATAT others(21): Show TATTATATATGTATATTATGTATACATAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	341	0.0029	28	c.896 others(45): Show c.896+3196_896+3197insTTATGTATACATAATATACATATATAAT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112391990	C C	CAATAAAT others(21): Show CAATAAATAAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0292 a0001c0005t0026g0292	1	194	0.0052	28	c.-44 others(39): Show c.-4416_-4415insAATAAATAAATAAATAAATAAATAAATA	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4223		chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112465445	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19081.hp1 NA19065.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0108 a0001c0002t0002g0094 a0001c0002t0002g0108	2	47	0.0426	28	c.80 others(39): Show c.8033_*8034insACACACACACACACACACACACACACAC	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4282		chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117864679	T T	TATATATA others(21): Show TATATATATTCATATATATTCATATATTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	162	0.0062	28	c.82- others(43): Show c.82-3391_82-3364dupGAATATATGAATATATATGAATATATAT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117871844	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01952.hp2 others(6): Show HG00609.hp1 HG00609.hp2 HG01952.hp2 HG02451.hp1 HG02723.hp2 HG03209.hp1 NA18522.hp2 NA18906.hp1 NA18951.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0016 a0006c0012 a0001c0001 a0001c0016 a0006c0012	a0001c0001t0001 a0001c0016t0001 a0006c0012t0002 a0001c0001t0001 a0001c0016t0001 a0006c0012t0002	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0081 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0148 a0001c0016t0001g0058 a0006c0012t0002g0055	9	41	0.2195	28	c.81+ others(43): Show c.81+1463_81+1490dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTXN3_chr5_127644082_127663630	127658663	A A	ATGCACTG others(21): Show ATGCACTGAGGGTGCTACCTGGTATTAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01496.hp2 others(4): Show HG01069.hp2 HG01071.hp1 HG01496.hp2 HG02630.hp2 HG03098.hp1 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0128 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0128 a0001c0001t0009g0011	7	470	0.0149	28	c.89 others(37): Show c.896_*897insTGCACTGAGGGTGCTACCTGGTATTAAG	CTXN3	ENSG00000205279.9	transcript	ENST00000379445.8	protein_coding		34		chr5	TogoVar
CTXND1_chr15_80190481_80257213	80204647	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0337 a0001c0001t0033g0337	1	27	0.0370	28	c.-21 others(45): Show c.-217-908_-217-907insTATATATATATATATATATATATATATA	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2			chr15	TogoVar
CUBN_chr10_16818966_17134811	16889947	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0098 a0098	a0098c0082 a0098c0082	a0098c0082t0001 a0098c0082t0001	a0098c0082t0001g0004 a0098c0082t0001g0004	1	190	0.0053	28	c.875 others(45): Show c.8755+423_8755+424insGTTTTGTTTTGTTTTGTTTTTTTTTTTT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	55/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	16901895	A A	ATATATAT others(21): Show ATATATATATATATACACACCATATATAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02602.hp2 HG03491.hp1 HG00642.hp1 HG02602.hp2 HG03491.hp1	a0002 a0005 a0061 a0002 a0005 a0061	a0002c0149 a0005c0003 a0061c0142 a0002c0149 a0005c0003 a0061c0142	a0002c0149t0001 a0005c0003t0001 a0061c0142t0003 a0002c0149t0001 a0005c0003t0001 a0061c0142t0003	a0002c0149t0001g0060 a0005c0003t0001g0070 a0061c0142t0003g0113 a0002c0149t0001g0060 a0005c0003t0001g0070 a0061c0142t0003g0113	3	188	0.0160	28	c.806 others(45): Show c.8063-437_8063-436insCTATATATGGTGTGTATATATATATATA	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	51/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	17083516	A A	AATAAATA others(21): Show AATAAATAAATAAATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG03041.hp2 others(1): Show HG02717.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2	a0003 a0020 a0065 others(1): Show a0003 a0020 a0065 a0075	a0003c0114 a0020c0115 a0065c0112 others(1): Show a0003c0114 a0020c0115 a0065c0112 a0075c0116	a0003c0114t0002 a0020c0115t0002 a0065c0112t0001 others(1): Show a0003c0114t0002 a0020c0115t0002 a0065c0112t0001 a0075c0116t0001	a0003c0114t0002g0054 a0020c0115t0002g0047 a0065c0112t0001g0148 others(1): Show a0003c0114t0002g0054 a0020c0115t0002g0047 a0065c0112t0001g0148 a0075c0116t0001g0020	4	21	0.1905	28	c.230 others(45): Show c.2301+754_2301+755insGTATGTATGTATGTATTTATTTATTTAT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	17/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	17083516	A A	AATAAATA others(21): Show AATAAATACATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0003 a0004c0002t0003	a0004c0002t0003g0033 a0004c0002t0003g0033	1	18	0.0556	28	c.230 others(45): Show c.2301+754_2301+755insGTATGTATGTATGTATGTATGTATTTAT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	17/66			chr10	TogoVar
CUEDC1_chr17_57856243_57960412	57893349	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0120 a0002c0003t0004g0120	1	98	0.0102	28	c.-31 others(47): Show c.-315-7471_-315-7470insCACACACACACACACACACACACACA CA	CUEDC1	ENSG00000180891.13	transcript	ENST00000577830.6	protein_coding	1/10			chr17	TogoVar

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