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
CSH1_chr17_63889918_63901574	63898164	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	291	0.0034	42	c.-16 others(53): Show c.-1654_-1653insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1591		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(35): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0073 a0001c0046t0073	a0001c0046t0073g0091 a0001c0046t0073g0091	1	9	0.1111	42	c.562 others(61): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC ACACACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411967	C C	CATACGTA others(35): Show CATACGTATATATGCATACGTATATATGCACGTATATATGCAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0003 a0001c0033t0003	a0001c0033t0003g0059 a0001c0033t0003g0059	1	101	0.0099	42	c.156 others(61): Show c.1562-2363_1562-2362insATGCATATATACGTGCATATATACGT ATGCATATATACGTAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3556412	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATACACACACACATAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	115	0.0087	42	c.134 others(63): Show c.1344+18532_1344+18533insGTATGTGTGTGTGTATATATATAT ATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795978	T T	TATATAGA others(35): Show TATATAGATATATATCATGTATAGATATAGATATATATCTATC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0036 a0001c0059t0001g0036	1	124	0.0081	42	c.819 others(61): Show c.819-41937_819-41936insGATAGATATATATCTATATCTATACA TGATATATATCTATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3869924	T T	TTAAACGG others(35): Show TTAAACGGCTAGTTTAAGGAAATGTATGCTCTCAAGTATAATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0038 a0038	a0038c0104 a0038c0104	a0038c0104t0069 a0038c0104t0069	a0038c0104t0069g0058 a0038c0104t0069g0058	1	126	0.0079	42	c.819 others(63): Show c.819-115883_819-115882insTATTATACTTGAGAGCATACATTT CCTTAAACTAGCCGTTTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3984091	A A	AGGGCTGT others(35): Show AGGGCTGTCAAAATCAACTCTAGAGCACATTGCAGATCTGATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00735.hp1 others(36): Show HG00099.hp1 HG00099.hp2 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01243.hp1 HG01261.hp2 HG01934.hp1 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03669.hp2 HG03710.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18979.hp1 NA18984.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19074.hp1 NA19090.hp2 NA20129.hp1	a0001 a0002 a0005 others(15): Show a0001 a0002 a0005 a0008 a0009 a0011 a0012 a0013 a0015 a0017 a0018 a0024 a0028 a0033 a0034 a0035 a0038 a0039	a0001c0001 a0001c0002 a0001c0003 others(34): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0025 a0001c0039 a0001c0050 a0001c0093 a0001c0103 a0001c0114 a0002c0036 a0002c0051 a0002c0054 a0002c0060 a0002c0072 a0002c0074 a0002c0076 a0002c0092 a0005c0064 a0005c0065 a0008c0088 a0009c0097 a0011c0016 a0012c0011 a0013c0018 a0015c0063 a0017c0101 a0018c0042 a0024c0052 a0028c0044 a0033c0013 a0034c0055 a0035c0023 a0038c0104 a0039c0010	a0001c0001t0038 a0001c0002t0002 a0001c0003t0011 others(36): Show a0001c0001t0038 a0001c0002t0002 a0001c0003t0011 a0001c0003t0019 a0001c0004t0063 a0001c0005t0006 a0001c0007t0001 a0001c0007t0032 a0001c0025t0003 a0001c0039t0064 a0001c0050t0052 a0001c0093t0009 a0001c0103t0033 a0001c0114t0003 a0002c0036t0030 a0002c0051t0007 a0002c0054t0079 a0002c0060t0007 a0002c0072t0003 a0002c0074t0040 a0002c0076t0039 a0002c0092t0001 a0005c0064t0050 a0005c0065t0023 a0008c0088t0076 a0009c0097t0017 a0011c0016t0048 a0012c0011t0072 a0013c0018t0058 a0015c0063t0010 a0017c0101t0008 a0018c0042t0004 a0024c0052t0049 a0028c0044t0071 a0033c0013t0006 a0034c0055t0034 a0035c0023t0001 a0038c0104t0069 a0039c0010t0068	a0001c0001t0038g0017 a0001c0002t0002g0083 a0001c0003t0011g0026 others(36): Show a0001c0001t0038g0017 a0001c0002t0002g0083 a0001c0003t0011g0026 a0001c0003t0019g0107 a0001c0004t0063g0095 a0001c0005t0006g0070 a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0025t0003g0077 a0001c0039t0064g0080 a0001c0050t0052g0120 a0001c0093t0009g0007 a0001c0103t0033g0028 a0001c0114t0003g0119 a0002c0036t0030g0009 a0002c0051t0007g0081 a0002c0054t0079g0096 a0002c0060t0007g0094 a0002c0072t0003g0066 a0002c0074t0040g0031 a0002c0076t0039g0014 a0002c0092t0001g0011 a0005c0064t0050g0078 a0005c0065t0023g0050 a0008c0088t0076g0057 a0009c0097t0017g0089 a0011c0016t0048g0106 a0012c0011t0072g0101 a0013c0018t0058g0068 a0015c0063t0010g0045 a0017c0101t0008g0023 a0018c0042t0004g0004 a0024c0052t0049g0098 a0028c0044t0071g0085 a0033c0013t0006g0112 a0034c0055t0034g0047 a0035c0023t0001g0052 a0038c0104t0069g0058 a0039c0010t0068g0084	39	125	0.3120	42	c.818 others(61): Show c.818+13811_818+13812insCATCAGATCTGCAATGTGCTCTAGAG TTGATTTTGACAGCCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3984107	A A	ACTCTAGA others(35): Show ACTCTAGAGCACATTGCAGATCTGATGGGGCTGTCAATTGCAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(54): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00735.hp2 HG01074.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG04204.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18995.hp1 NA18995.hp2 NA19060.hp2 NA19074.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0014 a0016 a0019 a0020 a0021 a0022 a0023 a0025 a0029 a0030 a0031 a0036 a0037	a0001c0001 a0001c0002 a0001c0017 others(53): Show a0001c0001 a0001c0002 a0001c0017 a0001c0033 a0001c0040 a0001c0043 a0001c0045 a0001c0046 a0001c0049 a0001c0059 a0001c0061 a0001c0071 a0001c0073 a0001c0079 a0001c0080 a0001c0081 a0001c0090 a0001c0094 a0001c0102 a0001c0108 a0001c0109 a0001c0111 a0001c0115 a0002c0022 a0002c0030 a0002c0031 a0002c0048 a0002c0053 a0002c0070 a0002c0075 a0002c0077 a0002c0089 a0002c0091 a0003c0056 a0003c0086 a0003c0099 a0004c0034 a0004c0057 a0004c0058 a0006c0008 a0007c0083 a0007c0116 a0008c0029 a0014c0098 a0016c0028 a0019c0082 a0020c0112 a0021c0038 a0022c0062 a0023c0069 a0025c0066 a0029c0027 a0030c0106 a0031c0113 a0036c0095 a0037c0009	a0001c0001t0002 a0001c0002t0026 a0001c0002t0061 others(54): Show a0001c0001t0002 a0001c0002t0026 a0001c0002t0061 a0001c0017t0005 a0001c0033t0003 a0001c0040t0019 a0001c0043t0031 a0001c0045t0014 a0001c0046t0073 a0001c0049t0002 a0001c0059t0001 a0001c0061t0001 a0001c0071t0067 a0001c0073t0006 a0001c0079t0070 a0001c0080t0041 a0001c0081t0036 a0001c0090t0001 a0001c0094t0002 a0001c0102t0005 a0001c0108t0054 a0001c0109t0037 a0001c0111t0045 a0001c0115t0042 a0002c0022t0035 a0002c0030t0018 a0002c0031t0015 a0002c0048t0011 a0002c0053t0022 a0002c0070t0046 a0002c0075t0028 a0002c0077t0001 a0002c0089t0001 a0002c0091t0002 a0003c0056t0062 a0003c0086t0002 a0003c0099t0012 a0004c0034t0029 a0004c0057t0080 a0004c0058t0056 a0006c0008t0082 a0007c0083t0004 a0007c0116t0004 a0008c0029t0013 a0014c0098t0027 a0016c0028t0024 a0019c0082t0051 a0020c0112t0081 a0021c0038t0075 a0022c0062t0057 a0023c0069t0043 a0025c0066t0010 a0029c0027t0003 a0030c0106t0014 a0031c0113t0013 a0036c0095t0002 a0037c0009t0001	a0001c0001t0002g0102 a0001c0002t0026g0005 a0001c0002t0061g0069 others(54): Show a0001c0001t0002g0102 a0001c0002t0026g0005 a0001c0002t0061g0069 a0001c0017t0005g0003 a0001c0033t0003g0059 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0045t0014g0010 a0001c0046t0073g0091 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0071t0067g0115 a0001c0073t0006g0108 a0001c0079t0070g0113 a0001c0080t0041g0025 a0001c0081t0036g0030 a0001c0090t0001g0027 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0108t0054g0074 a0001c0109t0037g0013 a0001c0111t0045g0063 a0001c0115t0042g0055 a0002c0022t0035g0048 a0002c0030t0018g0122 a0002c0031t0015g0001 a0002c0048t0011g0015 a0002c0053t0022g0041 a0002c0070t0046g0092 a0002c0075t0028g0051 a0002c0077t0001g0016 a0002c0089t0001g0037 a0002c0091t0002g0114 a0003c0056t0062g0072 a0003c0086t0002g0118 a0003c0099t0012g0020 a0004c0034t0029g0038 a0004c0057t0080g0075 a0004c0058t0056g0117 a0006c0008t0082g0126 a0007c0083t0004g0006 a0007c0116t0004g0039 a0008c0029t0013g0054 a0014c0098t0027g0019 a0016c0028t0024g0040 a0019c0082t0051g0097 a0020c0112t0081g0090 a0021c0038t0075g0067 a0022c0062t0057g0062 a0023c0069t0043g0100 a0025c0066t0010g0032 a0029c0027t0003g0099 a0030c0106t0014g0042 a0031c0113t0013g0043 a0036c0095t0002g0124 a0037c0009t0001g0002	57	86	0.6628	42	c.818 others(61): Show c.818+13795_818+13796insCTGCAATTGACAGCCCCATCAGATCT GCAATGTGCTCTAGAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3984108	C C	CTCTAGAG others(35): Show CTCTAGAGCACATTGCAGATCTGATGGGGCTGTCAATTGCAGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0085 a0002c0032 a0001c0085 a0002c0032	a0001c0085t0020 a0002c0032t0053 a0001c0085t0020 a0002c0032t0053	a0001c0085t0020g0060 a0002c0032t0053g0061 a0001c0085t0020g0060 a0002c0032t0053g0061	2	126	0.0159	42	c.818 others(61): Show c.818+13794_818+13795insACTGCAATTGACAGCCCCATCAGATC TGCAATGTGCTCTAGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312410	T T	TATATACC others(35): Show TATATACCTGTATATATACGTATATATATACGTATATACGTAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0022 a0002c0053t0022	a0002c0053t0022g0041 a0002c0053t0022g0041	1	100	0.0100	42	c.415 others(63): Show c.415+107542_415+107543insGTACGTATATACGTATATATATAC GTATATATACAGGTATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4742000	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0053 a0002c0032t0053	a0002c0032t0053g0061 a0002c0032t0053g0061	1	4	0.2500	42	c.86- others(61): Show c.86-104484_86-104443dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112369996	A A	AGAAGAGG others(35): Show AGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02895.hp1 HG02922.hp1 others(3): Show HG01175.hp1 HG02895.hp1 HG02922.hp1 HG03688.hp2 NA19030.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0005 others(1): Show a0001c0001 a0001c0007 a0002c0005 a0002c0010	a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0002c0005t0001 a0002c0010t0002	a0001c0001t0002g0025 a0001c0001t0003g0010 a0001c0007t0001g0012 others(3): Show a0001c0001t0002g0025 a0001c0001t0003g0010 a0001c0007t0001g0012 a0002c0005t0001g0027 a0002c0005t0001g0033 a0002c0010t0002g0070	6	76	0.0789	42	c.613 others(63): Show c.6136+10355_6136+10356insCTCTTCCTCTTCTTCCTCTTCCTC TTCTTCCTCTTCCTCTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1963292	A A	ATGGGGTG others(35): Show ATGGGGTGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	380	0.0026	42	c.-26 others(61): Show c.-265-6216_-265-6215insTGGGGTGGAGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAATAA others(35): Show AAAAATAATAATAATAATAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0006 a0001c0001t0037g0006	1	127	0.0079	42	c.106 others(61): Show c.1061-1034_1061-1033insATATATATATATATATATATATATTA TTATTATTATTATTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	253	0.0040	42	c.429 others(59): Show c.429+2471_429+2472insAATATATATATATATATATATATATATA TATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	253	0.0040	42	c.429 others(59): Show c.429+2471_429+2472insAAAATATATATATATATATATATATATA TATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSPG5_chr3_47557238_47583865	47578071	A A	ACCCCAGC others(35): Show ACCCCAGCCACCCGGTACCTCTAAGCCCCGTCCCGGAGTCTGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	360	0.0028	42	c.98- others(55): Show c.98-185_98-144dupGCAGACTCCGGGACGGGGCTTAGAGGTACCGG GTGGCTGGGG	CSPG5	ENSG00000114646.10	transcript	ENST00000264723.9	protein_coding	1/4			chr3	TogoVar
CSPP1_chr8_67059392_67201614	67160026	C C	CTTTTCTT others(35): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	140	0.0071	42	c.253 others(59): Show c.2538+898_2538+899insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTTCTTTTTCTTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165667052	A A	AAGGAAGG others(35): Show AAGGAAGGAAGGAAGGAAAGAGAGAGAGGAAGAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0167 a0001c0007t0005g0167	1	166	0.0060	42	c.408 others(59): Show c.408+9059_408+9060insGAAGAAGAAAGAGAGAGGAAGGAAGGAA GGAAAGAGAGAGAG	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST2_chr20_23818769_23831729	23831085	C C	CGAGGGGG others(35): Show CGAGGGGGGGGGGGGAGGGGGGGGATGGGATGGGTTTAGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	468	0.0021	42	c.-44 others(53): Show c.-4426_-4425insCCCCCTAAACCCATCCCATCCCCCCCCTCCCCCC CCCCCCTC	CST2	ENSG00000170369.4	transcript	ENST00000304725.3	protein_coding		4357		chr20	TogoVar
CTDP1_chr18_79674803_79759503	79732409	C C	CTCAGGAG others(35): Show CTCAGGAGTGCTCCCAAAATCACGTGAGACATGAGAACTCACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02071.hp2 NA18612.hp2 others(9): Show HG00558.hp2 HG02071.hp2 NA18612.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18972.hp2 NA18994.hp2 NA19064.hp1 NA19066.hp1 NA19081.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0250 a0002c0002t0001g0252 others(8): Show a0002c0002t0001g0006 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0265 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0292	12	298	0.0403	42	c.258 others(61): Show c.2580+3505_2580+3546dupCACATCAGGAGTGCTCCCAAAATCAC GTGAGACATGAGAACT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752485	A A	AGTGGCAC others(35): Show AGTGGCACCGGCTGGTTACGCAGAGGCTCGTAAGGAAAGCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00733.hp1 others(5): Show HG00280.hp2 HG00323.hp1 HG00733.hp1 HG01074.hp2 HG01123.hp2 HG01516.hp2 HG02683.hp2 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0011 a0004c0004t0003 a0004c0004t0011	a0004c0004t0003g0327 a0004c0004t0003g0328 a0004c0004t0003g0329 others(5): Show a0004c0004t0003g0327 a0004c0004t0003g0328 a0004c0004t0003g0329 a0004c0004t0003g0330 a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0003g0333 a0004c0004t0011g0326	8	376	0.0213	42	c.274 others(61): Show c.2748-1150_2748-1149insCGCAGAGGCTCGTAAGGAAAGCCTTG TGGCACCGGCTGGTTA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752514	G G	GTAAGGAA others(35): Show GTAAGGAAAGCCTAGTGGCACCGGCTGGTTACGCAGAGGCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00733.hp1 others(4): Show HG00280.hp2 HG00323.hp1 HG00733.hp1 HG01074.hp2 HG01123.hp2 HG01516.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0011 a0004c0004t0003 a0004c0004t0011	a0004c0004t0003g0327 a0004c0004t0003g0328 a0004c0004t0003g0329 others(4): Show a0004c0004t0003g0327 a0004c0004t0003g0328 a0004c0004t0003g0329 a0004c0004t0003g0330 a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0011g0326	7	369	0.0190	42	c.274 others(61): Show c.2748-1108_2748-1107insCGCAGAGGCTCCTAAGGAAAGCCTAG TGGCACCGGCTGGTTA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752662	G G	GGCTGGTT others(35): Show GGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	376	0.0027	42	c.274 others(59): Show c.2748-971_2748-970insCTAAGGAAAGCCTAGTGGCACCCGCTGG TTATGCAGAGGCTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752766	C C	CTAAGGAA others(35): Show CTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03834.hp1 HG03225.hp2 HG03834.hp1	a0001 a0005 a0001 a0005	a0001c0007 a0005c0024 a0001c0007 a0005c0024	a0001c0007t0012 a0005c0024t0001 a0001c0007t0012 a0005c0024t0001	a0001c0007t0012g0347 a0005c0024t0001g0364 a0001c0007t0012g0347 a0005c0024t0001g0364	2	55	0.0364	42	c.274 others(59): Show c.2748-844_2748-803dupGTAAGGAAAGCCTAGTGGCACCGGCTGG TTATGCAGAGGCTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752872	G G	GGCTGGTT others(35): Show GGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0102 a0001c0001t0008g0102	1	373	0.0027	42	c.274 others(59): Show c.2748-761_2748-760insCTAAGGAAAGCCTAGTGGCACCCGCTGG TTATGCAGAGGCTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752892	G G	GTAAGGAA others(35): Show GTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG03834.hp1 HG02922.hp2 HG03516.hp1 HG03834.hp1	a0001 a0001	a0001c0007 a0001c0017 a0001c0007 a0001c0017	a0001c0007t0012 a0001c0017t0003 a0001c0007t0012 a0001c0017t0003	a0001c0007t0012g0347 a0001c0017t0003g0020 a0001c0017t0003g0021 a0001c0007t0012g0347 a0001c0017t0003g0020 a0001c0017t0003g0021	3	331	0.0091	42	c.274 others(59): Show c.2748-719_2748-718insCTAAGGAAAGCCTAGTGGCACCGGCTGG TTATGCAGAGGCTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752934	G G	GTAAGGAA others(35): Show GTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0307 a0004c0004t0001g0307	1	239	0.0042	42	c.274 others(59): Show c.2748-592_2748-551dupCTAAGGAAAGCCTAGTGGCACCGGCTGG TTATGCAGAGGCTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA3_chr10_65907523_67701195	66524186	C C	CTGTCCCA others(35): Show CTGTCCCATTCCCTATACCCAGCAAATTGAATTTTCTCCTTTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01081.hp1 others(30): Show HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18612.hp1 NA18612.hp2 NA18960.hp2 NA18964.hp1 NA19080.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0002c0002 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0003t0008 a0001c0003t0011 a0001c0003t0014 a0001c0003t0018 a0001c0003t0022 a0001c0004t0001 a0001c0005t0010 a0001c0006t0001 a0001c0007t0015 a0001c0011t0009 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0013 a0002c0002t0017 a0003c0009t0003	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0002g0010 others(30): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0002g0010 a0001c0001t0004g0043 a0001c0001t0005g0011 a0001c0001t0006g0027 a0001c0001t0007g0020 a0001c0001t0008g0004 a0001c0001t0009g0030 a0001c0001t0012g0038 a0001c0001t0016g0003 a0001c0001t0019g0019 a0001c0001t0020g0032 a0001c0001t0021g0009 a0001c0001t0023g0012 a0001c0003t0008g0002 a0001c0003t0011g0031 a0001c0003t0014g0025 a0001c0003t0018g0037 a0001c0003t0022g0022 a0001c0004t0001g0018 a0001c0005t0010g0029 a0001c0005t0010g0034 a0001c0006t0001g0001 a0001c0007t0015g0016 a0001c0011t0009g0017 a0002c0002t0002g0013 a0002c0002t0003g0042 a0002c0002t0004g0028 a0002c0002t0005g0014 a0002c0002t0013g0026 a0002c0002t0017g0040 a0003c0009t0003g0036	33	46	0.7174	42	c.137 others(61): Show c.1375-3414_1375-3413insCAAAGGAGAAAATTCAATTTGCTGGG TATAGGGAATGGGACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0012 a0001c0001t0023g0012	1	12	0.0833	42	c.104 others(63): Show c.1047+46988_1047+46989insGTATAAATATATATATATATATAT ATATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNS_chr17_3631760_3668103	3635236	A A	AGGAAGGA others(35): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0040 a0001c0004t0008g0040	1	350	0.0029	42	c.-18 others(53): Show c.-1825_-1824insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAG GAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1523		chr17	TogoVar
CTNS_chr17_3631760_3668103	3635236	A A	AGGAAGGA others(35): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01168.hp1 others(2): Show HG00099.hp2 HG00642.hp1 HG01168.hp1 HG02683.hp1 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0004 a0002c0002t0007 a0001c0003t0003 a0002c0002t0004 a0002c0002t0007	a0001c0003t0003g0230 a0002c0002t0004g0034 a0002c0002t0007g0036 others(1): Show a0001c0003t0003g0230 a0002c0002t0004g0034 a0002c0002t0007g0036 a0002c0002t0007g0241	5	354	0.0141	42	c.-18 others(53): Show c.-1825_-1824insGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAAG GAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1523		chr17	TogoVar
CTNS_chr17_3631760_3668103	3656381	C C	CCCCTGCC others(35): Show CCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0232 a0001c0003t0006g0232	1	367	0.0027	42	c.462 others(57): Show c.462-105_462-104insCCTGCCCTGCCCCACCACCCCTCGCCAGTC CTTACCCCCCAC	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS2_chrX_16582999_16717669	16600375	A A	ATGTTTTA others(35): Show ATGTTTTAAATATACTTTTAAAATCCGTTCTCTGTGAACACAG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	224	0.0045	42	c.169 others(61): Show c.1691+9165_1691+9166insCTGTGTTCACAGAGAACGGATTTTAA AAGTATATTTAAAACA	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	17/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16624139	A A	AATAATGA others(35): Show AATAATGAATTGTTGAATGAAATCAACATACAACAGATACGAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	224	0.0045	42	c.139 others(61): Show c.1394-3849_1394-3808dupATCGTATCTGTTGTATGTTGATTTCA TTCAACAATTCATTAT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	14/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16661993	C C	CATATATA others(35): Show CATATATATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18975.hp1 HG02818.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0172 a0001c0001t0002g0128 a0001c0001t0001g0172 a0001c0001t0002g0128	2	166	0.0120	42	c.129 others(61): Show c.1296+5520_1296+5521insATATATATATATATATATATATATAT ATATATGTATATATAT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(35): Show TGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02735.hp1 HG03516.hp2 others(3): Show HG02683.hp1 HG02735.hp1 HG03516.hp2 HG03834.hp1 NA18990.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0042 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0042 a0001c0001t0001g0226 a0001c0001t0001g0233	6	35	0.1714	42	c.24 others(53): Show c.2436_*2437insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSD_chr11_1747755_1768927	1754533	A A	AGGGATGG others(35): Show AGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATGGAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	158	0.0063	42	c.827 others(57): Show c.827+372_827+373insCTCCATCCCTCCATCCCTCCATCCCCTCCA TCCCTCCATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSD_chr11_1747755_1768927	1754552	G G	GATGGAGG others(35): Show GATGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19082.hp1 NA19083.hp1 others(1): Show NA19011.hp1 NA19082.hp1 NA19083.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0093 a0001c0001t0001g0017 a0001c0001t0001g0093	4	382	0.0105	42	c.827 others(57): Show c.827+353_827+354insTCCTCCATCCCTCCATCCCCTCCATCCCTC CATCCCCTCCAT	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSD_chr11_1747755_1768927	1765074	A A	ATATATAC others(35): Show ATATATACATGTATATGTGTATATATGTGTATATATATACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	302	0.0033	42	c.-12 others(53): Show c.-1216_-1215insCATGTATATATATACACATATATACACATATACA TGTATATA	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		1148		chr11	TogoVar
CTSG_chr14_24568518_24581250	24568673	C C	CATGACAG others(35): Show CATGACAGAATTTCATCAAACCACAAAGAGAAAAACACAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	42	c.49 others(53): Show c.4963_*4964insTCTCTGTGTTTTTCTCTTTGTGGTTTGATGAAAT TCTGTCAT	CTSG	ENSG00000100448.4	transcript	ENST00000216336.3	protein_coding		4844		chr14	TogoVar
CTTNBP2_chr7_117705651_117878441	117864751	A A	ATATATTC others(35): Show ATATATTCATATATATTCATTCTATATTCATATATATTCATTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	162	0.0062	42	c.82- others(57): Show c.82-3436_82-3435insGAATGAATATATATGAATATAGAATGAATA TATATGAATATA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117864822	A A	ATTCATAT others(35): Show ATTCATATATATTCATTCAATATATATTCATATATATTCATTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	162	0.0062	42	c.82- others(57): Show c.82-3507_82-3506insGAATGAATATATATGAATATATATTGAATG AATATATATGAA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117864868	A A	ATTCATAT others(35): Show ATTCATATATATTCATTCAATATATATTCATATATATTCATTC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	162	0.0062	42	c.82- others(57): Show c.82-3553_82-3552insGAATGAATATATATGAATATATATTGAATG AATATATATGAA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCACAC others(35): Show GCGCACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	220	0.0045	42	c.-16 others(61): Show c.-161-4742_-161-4741insGCACACACACACACACACACACACAC ACACACACACACACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101811007_102288958	102278657	A A	AATAAAAT others(35): Show AATAAAATAAAATAAAATAAAATAAAATAAAAAAATAAAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0132 a0002c0005t0001g0132	1	79	0.0127	42	c.168 others(59): Show c.1680+593_1680+594insTAAAATAAAATAAAATAAAATAAAATAA AAAAATAAAATATA	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(35): Show TCTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp2 HG01891.hp1 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0002 a0001c0009t0001 a0001c0008t0002 a0001c0009t0001	a0001c0008t0002g0022 a0001c0009t0001g0035 a0001c0008t0002g0022 a0001c0009t0001g0035	2	73	0.0274	42	c.292 others(61): Show c.2927-5466_2927-5465insTCTCTCTCTCTCTCTCTCTCCCCCTC TCTCCCTCTCTCCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	150	0.0067	42	c.670 others(57): Show c.670-646_670-645insTATATATATATATATATATATATATATATA TATATATATATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(35): Show GTGTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19007.hp2 NA18985.hp2 NA19007.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0018 a0003c0003 a0012c0018	a0003c0003t0002 a0012c0018t0002 a0003c0003t0002 a0012c0018t0002	a0003c0003t0002g0011 a0012c0018t0002g0297 a0003c0003t0002g0011 a0012c0018t0002g0297	2	72	0.0278	42	c.161 others(61): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATATATATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(35): Show GTGTGTATGTATGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0232 a0003c0003t0002g0232	1	71	0.0141	42	c.161 others(61): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATACATACATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar

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