Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

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
CSNK1G1_chr15_64160525_64361173	64231417	G G	GTATATAT others(23): Show GTATATATATATTAGGATATATATGTATATA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18999.hp1 NA19054.hp1 others(1): Show NA18962.hp2 NA18999.hp1 NA19054.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0133 others(1): Show a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0133 a0001c0001t0004g0134	4	176	0.0227	30	c.293 others(49): Show c.293-14705_293-14704insTATATACATATATATCCTAATATATA TATA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	176	0.0057	30	c.292 others(49): Show c.292+12993_292+12994insATATATATATATATATATATATATTT TTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0175 a0001c0001t0005g0175	1	176	0.0057	30	c.292 others(49): Show c.292+12993_292+12994insATATATATATATATATATATATATAT TTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64343208	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01169.hp1 HG02965.hp2 others(11): Show HG00621.hp2 HG01169.hp1 HG02965.hp2 HG03710.hp2 NA18957.hp1 NA18999.hp2 NA19003.hp1 NA19054.hp1 NA19054.hp2 NA19067.hp1 NA19067.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0030 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0078 others(11): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0078 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0018g0136 a0001c0001t0030g0130 a0001c0002t0001g0024 a0001c0002t0001g0027 a0001c0002t0001g0055 a0001c0002t0001g0095 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0003t0002g0085	14	176	0.0796	30	c.-22 others(51): Show c.-225+12779_-225+12780insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK2A1_chr20_467498_548790	485107	A A	ATAATAAT others(23): Show ATAATAATAATAATAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0002 a0001c0001t0089g0002	1	316	0.0032	30	c.106 others(49): Show c.1061-1032_1061-1031insATATATATATATATATTATTATTATT ATTA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	316	0.0032	30	c.106 others(49): Show c.1061-1034_1061-1033insATATATATATATTTTTTTTTTTTTTT TTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0273	1	316	0.0032	30	c.106 others(49): Show c.1061-1034_1061-1033insATATATATATATATATATATTTTTTT TTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0234	1	316	0.0032	30	c.106 others(49): Show c.1061-1034_1061-1033insATATATATATATATATATATATATAT ATTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AATAATAA others(23): Show AATAATAATAATAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0003 a0001c0001t0037g0003	1	316	0.0032	30	c.106 others(49): Show c.1061-1034_1061-1033insATATATATATATATATATTATTATTA TTAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58155976	T T	TGAGGAGG others(23): Show TGAGGAGGAGCTGAAGACAGTTTTTGTGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0048 a0001c0001t0008g0048	1	400	0.0025	30	c.23 others(41): Show c.2394_*2395insTACCACAAAAACTGTCTTCAGCTCCTCCTC	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding		1930		chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01993.hp2 others(2): Show HG00609.hp1 HG00673.hp1 HG01993.hp2 HG02886.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0163 a0001c0001t0001g0255	5	400	0.0125	30	c.429 others(47): Show c.429+2492_429+2493insATATATATATATATATATATATATATAT AT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18994.hp2 HG02165.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0081 a0001c0001t0001g0096	2	400	0.0050	30	c.429 others(47): Show c.429+2471_429+2472insAATATATATATATATATATATATATATA TA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	400	0.0025	30	c.429 others(47): Show c.429+2471_429+2472insAAAATATATATATATATATATATATATA TA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88457695	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0245 a0004c0005t0001g0247 a0004c0005t0001g0245 a0004c0005t0001g0247	2	386	0.0052	30	c.-27 others(49): Show c.-270-7362_-270-7333dupAAAATAAAATAAAATAAAATAAAATA AAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPP1_chr8_67059392_67201614	67083548	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0028 a0002c0004t0003g0028	1	158	0.0063	30	c.200 others(47): Show c.200-2458_200-2457insAAAAAAAAAAAAAATATATATATATATA TA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165466966	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0067 a0002c0003t0010g0067	1	246	0.0041	30	c.-30 others(41): Show c.-3057_-3056insATATATATATATATATATATATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding		2731		chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165477483	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA20129.hp1 HG02647.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0083 a0001c0001t0028 a0001c0001t0083	a0001c0001t0028g0074 a0001c0001t0083g0075 a0001c0001t0028g0074 a0001c0001t0083g0075	2	246	0.0081	30	c.-28 others(49): Show c.-283+7758_-283+7759insTATATATATATATATATATATATATA TATA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490200	T T	TTATATAT others(23): Show TTATATATATAAATTATATATATATAATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	30	c.-12 others(41): Show c.-1286_-1285insTATATATATAAATTATATATATATAATTAA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		916		chr20	TogoVar
CT45A6_chrX_135789685_135807787	135803958	A A	AGAAAGAG others(23): Show AGAAAGAGAGAGAAAGAAAAAAAGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	36	0.0278	30	c.-14 others(41): Show c.-1455_-1454insCTTCCTTCTTTTTTTCTTTCTCTCTCTTTC	CT45A6	ENSG00000278289.5	transcript	ENST00000620654.2	protein_coding		1172		chrX	TogoVar
CTCF_chr16_67557526_67644177	67584334	C C	CGTCTTTT others(23): Show CGTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	168	0.0060	30	c.-10 others(49): Show c.-10+13070_-10+13071insGTCTTTTTTTTTTTTTTTTTTTTTTT TTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	2/11			chr16	TogoVar
CTDP1_chr18_79674803_79759503	79739776	A A	AGGACGGG others(23): Show AGGACGGGTGGGACTCTCATACCCACGGCCG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG01081.hp2 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0028 a0002c0006 a0001c0028 a0002c0006	a0001c0028t0001 a0002c0006t0001 a0001c0028t0001 a0002c0006t0001	a0001c0028t0001g0202 a0002c0006t0001g0221 a0001c0028t0001g0202 a0002c0006t0001g0221	2	378	0.0053	30	c.274 others(49): Show c.2747+3661_2747+3690dupTCATACCCACGGCCGGGACGGGTGGG ACTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDSP2_chr12_57814927_57851729	57818182	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	346	0.0029	30	c.53 others(41): Show c.5390_*5419dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CTDSP2	ENSG00000175215.11	transcript	ENST00000398073.7	protein_coding		1744		chr12	TogoVar
CTDSPL2_chr15_44422629_44534038	44506025	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	234	0.0043	30	c.969 others(47): Show c.969+6234_969+6235insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTDSPL2_chr15_44422629_44534038	44507952	C C	CTGTATTT others(23): Show CTGTATTTTATAGATAGGGAAACTGAGGTAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0044 a0001c0002t0005g0044	1	234	0.0043	30	c.970 others(47): Show c.970-6645_970-6616dupTGTATTTTATAGATAGGGAAACTGAGGT AT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTIF_chr18_48534031_48868217	48568633	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	144	0.0069	30	c.-29 others(49): Show c.-29+29327_-29+29356dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48699392	A A	ATGGGGCT others(23): Show ATGGGGCTGGGGCTGGGGCTGGGGCTGGGGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0019 a0001c0001t0018g0019	1	144	0.0069	30	c.508 others(49): Show c.508-12211_508-12182dupGGCTGGGGCTGGGGCTGGGGCTGGGG CTGG	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA1_chr5_138748425_138940034	138777903	A A	AGAGGAGG others(23): Show AGAGGAGGGAGAGGGGGAGGAGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG02074.hp2 others(2): Show HG00741.hp1 HG01243.hp1 HG02074.hp2 HG02486.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0002t0003g0032 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0044	5	180	0.0278	30	c.-2- others(45): Show c.-2-3985_-2-3956dupAGGGAGAGGGGGAGGAGGGAGAGGGGGAGG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138777937	G G	GAGGGAGA others(23): Show GAGGGAGAGGGGGAGGAGGGAGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02559.hp2 others(9): Show HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018	12	180	0.0667	30	c.-2- others(45): Show c.-2-3957_-2-3956insAAGGGAGAGGGGGAGGAGGGAGAGGGGGAG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79818821	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0007 a0001c0007t0001g0068 a0001c0002t0001g0007 a0001c0007t0001g0068	2	68	0.0294	30	c.299 others(49): Show c.299-39191_299-39190insTTATATATATATATATATATATATAT ATAT	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(23): Show TTTATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0004 a0001c0002t0001g0022	2	68	0.0294	30	c.174 others(49): Show c.1741+3998_1741+3999insTTATATATATATATATATATATATAC ACAC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18			chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559891	T T	TTTTTATA others(23): Show TTTTTATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp2 HG03139.hp2 others(1): Show HG02630.hp2 HG02965.hp2 HG03139.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0001c0014 others(1): Show a0001c0001 a0001c0010 a0001c0014 a0002c0006	a0001c0001t0001 a0001c0010t0001 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0001c0014t0001 a0002c0006t0001	a0001c0001t0001g0067 a0001c0010t0001g0024 a0001c0014t0001g0016 others(1): Show a0001c0001t0001g0067 a0001c0010t0001g0024 a0001c0014t0001g0016 a0002c0006t0001g0060	4	68	0.0588	30	c.174 others(49): Show c.1741+3998_1741+3999insTTTTATATATATATATATATATATAT ACAC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18			chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66042899	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0030 a0001c0001t0020g0030	1	46	0.0217	30	c.215 others(51): Show c.2159+26379_2159+26408dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATGTATA others(23): Show GATGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	46	0.0217	30	c.153 others(51): Show c.1532-42546_1532-42545insATATATATATATATATATATATAT ATACAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TATATATA others(23): Show TATATATATATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02717.hp1 HG01081.hp2 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0008 a0001c0004t0007 a0001c0003t0008 a0001c0004t0007	a0001c0003t0008g0002 a0001c0004t0007g0005 a0001c0003t0008g0002 a0001c0004t0007g0005	2	46	0.0435	30	c.104 others(51): Show c.1047+46988_1047+46989insGTATAAATATATATATATATATAT ATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TTTATTTA others(23): Show TTTATTTATATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0016 a0001c0007t0015g0016	1	46	0.0217	30	c.104 others(51): Show c.1047+46988_1047+46989insGTATAAATATATATATATATATAT AAATAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0019 a0001c0001t0019g0019	1	46	0.0217	30	c.293 others(49): Show c.293-26375_293-26374insTATATATATATATATATATATATATA TACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNND1_chr11_57756802_57824540	57762290	A A	AATACAGG others(23): Show AATACAGGAAGCTGAATAGATCCAGAGGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0265 a0002c0003t0004g0265	1	288	0.0035	30	c.-21 others(47): Show c.-214+173_-214+202dupTACAGGAAGCTGAATAGATCCAGAGGGG TA	CTNND1	ENSG00000198561.16	transcript	ENST00000399050.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNND2_chr5_10966836_11909446	11376322	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTTCATGTATC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp1 NA19068.hp2 HG02258.hp1 NA19043.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0001t0001g0003 a0001c0003t0001g0007 a0001c0004t0001g0019	3	26	0.1154	30	c.117 others(49): Show c.1177+8342_1177+8343insGATACATGAACACACACACACACACA CACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11879341	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp1 HG02647.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0004 a0001c0001t0001g0011	2	26	0.0769	30	c.37+ others(47): Show c.37+24475_37+24476insTATATATATATATATATATATATACACA CA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635236	A A	AGGAAGGA others(23): Show AGGAAGGAAGGAAGGAAGGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0303 a0002c0002t0004g0303	1	372	0.0027	30	c.-18 others(41): Show c.-1825_-1824insGGAAGGAAGGAAGGAAGGGAAGGAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1523		chr17	TogoVar
CTNS_chr17_3631760_3668103	3641359	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0124 a0001c0001t0083g0124	1	372	0.0027	30	c.61+ others(45): Show c.61+1118_61+1119insATATATATATATATATATATATATATATAT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0130 a0001c0001t0079g0130	1	372	0.0027	30	c.61+ others(45): Show c.61+1118_61+1119insATATATATATATATATATATATATATATTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0143 a0001c0001t0060g0143	1	372	0.0027	30	c.61+ others(45): Show c.61+1118_61+1119insATATATATATATATATATATATATTTTTTT	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(23): Show CATATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00140.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0174 a0001c0001t0001g0185	2	226	0.0089	30	c.129 others(49): Show c.1296+5520_1296+5521insATATATATATATATATATATGTATAT ATAT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTR9_chr11_10746246_10784746	10747317	A A	ATATATAT others(23): Show ATATATATTATATATTATATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG03516.hp2 HG02965.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0114 a0001c0003t0001g0200 a0001c0003t0001g0045 a0001c0003t0001g0114 a0001c0003t0001g0200	3	406	0.0074	30	c.-40 others(41): Show c.-4096_-4095insTATATATTATATATTATATATAATATATAT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3928		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747332	T T	TATATATA others(23): Show TATATATAATATATATTATATATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02451.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0204 a0001c0003t0001g0047 a0001c0001t0002g0204 a0001c0003t0001g0047	2	406	0.0049	30	c.-40 others(41): Show c.-4081_-4080insATATATAATATATATTATATATTATATATA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3913		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747340	A A	ATATATAT others(23): Show ATATATATTATATATTATATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG04199.hp2 HG04204.hp1 HG00738.hp2 HG04199.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0003 a0001c0003t0004g0159 a0001c0003t0004g0160 a0001c0001t0001g0003 a0001c0003t0004g0159 a0001c0003t0004g0160	3	406	0.0074	30	c.-40 others(41): Show c.-4073_-4072insTATATATTATATATTATATATAATATATAT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3905		chr11	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(23): Show TGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01074.hp1 HG01358.hp1 others(23): Show HG00558.hp2 HG01074.hp1 HG01358.hp1 HG01884.hp2 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02280.hp2 HG02615.hp2 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03654.hp2 HG03688.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18974.hp2 NA18986.hp2 NA19000.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0034 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0126 a0001c0001t0001g0146 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0292 a0001c0001t0002g0057	26	434	0.0599	30	c.24 others(41): Show c.2436_*2437insTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSS_chr1_150725188_150770778	150744398	A A	ATTATATA others(23): Show ATTATATATGTATATTATGTATACATAATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	344	0.0029	30	c.896 others(47): Show c.896+3378_896+3379insATATTATGTATACATAATATACATATAT AA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744505	A A	ATTATATA others(23): Show ATTATATATGTATATTATGTATACATAATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	344	0.0029	30	c.896 others(47): Show c.896+3271_896+3272insATATTATGTATACATAATATACATATAT AA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar

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