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
CDK13_chr7_39945256_40104580	40024645	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0244 a0001c0003t0009g0244	1	11	0.0909	17	c.235 others(38): Show c.2354-21174_2354-21158dupTTTTTTTTTTTTTTTTT	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	40039434	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0248 a0001c0003t0009g0248	1	109	0.0092	17	c.235 others(36): Show c.2354-6395_2354-6379dupTTTTTTTTTTTTTTTTT	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90598704	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02135.hp2 HG02145.hp2 others(7): Show HG00735.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02738.hp2 HG03486.hp1 HG03491.hp1 HG06807.hp2 NA19009.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0028 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0028 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0168 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0004g0036 a0001c0001t0014g0019 a0001c0001t0028g0023 a0001c0002t0001g0024	10	16	0.6250	17	c.91+ others(32): Show c.91+1988_91+2004dupTTTTTTTTTTTTTTTTT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90649345	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	161	0.0062	17	c.123 others(36): Show c.123+45098_123+45114dupTCCTTCCTTCCTTCCTT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90729344	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	44	0.0227	17	c.369 others(34): Show c.369+2543_369+2559dupTTTTTTTTTTTTTTTTT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90778898	T T	TCCTTCCT others(10): Show TCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	106	0.0094	17	c.465 others(36): Show c.465-11674_465-11673insCTTCCTTCCTTCCTTCC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90908552	A A	ACCTTGCT others(10): Show ACCTTGCTTTACACCTTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	166	0.0060	17	c.703 others(34): Show c.703-9048_703-9047insCTTGCTTTACACCTTGC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01258.hp2 HG01975.hp2 others(5): Show HG01081.hp2 HG01258.hp2 HG01975.hp2 HG02055.hp1 HG02083.hp1 HG02129.hp2 NA19057.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0280 a0001c0001t0002g0267 a0001c0001t0003g0033 others(5): Show a0001c0001t0001g0280 a0001c0001t0002g0267 a0001c0001t0003g0033 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0092 a0001c0001t0004g0226 a0001c0001t0005g0253	8	153	0.0523	17	c.100 others(36): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK17_chr12_96273261_96405439	96308229	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01168.hp2 others(3): Show HG00099.hp2 HG00280.hp1 HG01168.hp2 HG01169.hp2 HG02055.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0238 a0001c0001t0007g0241 a0001c0001t0007g0243 others(3): Show a0001c0001t0007g0238 a0001c0001t0007g0241 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0011g0237	6	277	0.0217	17	c.543 others(34): Show c.543+2806_543+2822dupTTTTTTTTTTTTTTTTT	CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding	5/16			chr12	TogoVar
CDK17_chr12_96273261_96405439	96368806	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18747.hp1 HG00280.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0053 a0001c0001t0007g0241 a0001c0001t0001g0053 a0001c0001t0007g0241	2	20	0.1000	17	c.-30 others(36): Show c.-30+31163_-30+31179dupCCCCCCCCCCCCCCCCC	CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding	1/16			chr12	TogoVar
CDK18_chr1_205499669_205537790	205532903	A A	ATGTGTGT others(10): Show ATGTGTGTGGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	217	0.0046	17	c.15 others(28): Show c.1525_*1526insTGTGTGTGGTGTGTGTG	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		114		chr1	TogoVar
CDK2AP1_chr12_123255976_123276856	123274793	G G	GAAAGAAA others(10): Show GAAAGAAAGAAACAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	95	0.0105	17	c.-31 others(28): Show c.-3176_-3175insTCTTTGTTTCTTTCTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		2938		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123274793	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02300.hp1 NA19090.hp1 HG01975.hp1 HG02300.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0060 a0001c0001t0001g0001 a0001c0001t0001g0060	3	97	0.0309	17	c.-31 others(28): Show c.-3176_-3175insTGTTTCTTTCTTTCTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		2938		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123274888	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp2 HG01168.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	59	0.0339	17	c.-32 others(28): Show c.-3271_-3270insTTTTTCTTTCTTTCTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3033		chr12	TogoVar
CDK6_chr7_92599921_92841573	92711552	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0108 a0001c0001t0011g0108	1	24	0.0417	17	c.537 others(36): Show c.537+14057_537+14073dupAAAAAAAAAAAAAAAAA	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	4/7			chr7	TogoVar
CDK8_chr13_26249129_26410238	26278831	T T	TAGTTGTG others(10): Show TAGTTGTGTCCGTACTGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG02922.hp1 HG02280.hp2 HG02818.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0224 a0001c0001t0001g0246 a0001c0001t0001g0248	3	326	0.0092	17	c.128 others(36): Show c.128+24064_128+24080dupGTTGTGTCCGTACTGAA	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK8_chr13_26249129_26410238	26363327	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp2 HG00741.hp1 others(18): Show HG00423.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01358.hp1 HG01891.hp1 HG02004.hp2 HG02071.hp2 HG02148.hp1 HG02155.hp1 HG02698.hp1 HG04204.hp1 NA18949.hp1 NA18972.hp1 NA18988.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19072.hp2 NA19086.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0072 others(18): Show a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0181	21	32	0.6563	17	c.456 others(34): Show c.456+9461_456+9462insAAAAAAAAAAAAAAAAA	CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDKAL1_chr6_20529457_21237404	20748436	G G	GGAGTTCC others(10): Show GGAGTTCCAGGCTGTGGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0107 a0002c0003t0003g0107	1	194	0.0052	17	c.468 others(34): Show c.468+8838_468+8854dupCGAGTTCCAGGCTGTGG	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20756906	T T	TCCTTCCT others(10): Show TCCTTCCTTCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01192.hp2 HG01257.hp1 others(7): Show HG00544.hp1 HG01192.hp2 HG01257.hp1 HG02027.hp2 HG02056.hp2 HG02109.hp1 HG03041.hp1 NA18970.hp2 NA18992.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0027 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0027 a0001c0002t0001 a0001c0002t0008 a0001c0002t0033 a0001c0010t0002 a0001c0010t0017 a0002c0003t0005 a0002c0007t0030	a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0027g0124 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0027g0124 a0001c0002t0001g0108 a0001c0002t0008g0040 a0001c0002t0033g0193 a0001c0010t0002g0106 a0001c0010t0017g0194 a0002c0003t0005g0112 a0002c0007t0030g0025	10	173	0.0578	17	c.469 others(34): Show c.469-1679_469-1678insCTCCTTCCCTTCCTTCC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50380802	C C	CTTTGTTT others(10): Show CTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00639.hp1 others(14): Show HG00438.hp1 HG00621.hp1 HG00639.hp1 HG01257.hp2 HG01361.hp2 HG01928.hp2 HG02004.hp2 HG02602.hp2 HG02970.hp2 HG03831.hp1 HG03834.hp1 HG04228.hp2 NA18981.hp2 NA18986.hp1 NA18990.hp2 NA19054.hp1 NA19072.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0025 a0001c0001t0032 a0001c0001t0092 a0001c0001t0101 a0001c0001t0107 a0001c0001t0116 a0002c0002t0005 a0002c0002t0009 a0002c0002t0034 a0002c0002t0093	a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0034 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0002g0212 a0001c0001t0004g0116 a0001c0001t0018g0010 a0001c0001t0025g0101 a0001c0001t0032g0092 a0001c0001t0092g0029 a0001c0001t0101g0098 a0001c0001t0107g0175 a0001c0001t0116g0176 a0002c0002t0005g0036 a0002c0002t0009g0035 a0002c0002t0034g0201 a0002c0002t0093g0033	17	181	0.0939	17	c.168 others(36): Show c.168+14898_168+14899insAAAAAAAAAAAAACAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKN1A_chr6_36673714_36692332	36681267	T T	TCTTTCTC others(10): Show TCTTTCTCTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18942.hp2 NA19056.hp1 others(1): Show HG00621.hp1 NA18942.hp2 NA19056.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0009 a0001c0001t0001g0212 a0001c0001t0008g0009 a0001c0001t0001g0009 a0001c0001t0001g0212 a0001c0001t0008g0009	4	452	0.0088	17	c.-6+ others(32): Show c.-6+2475_-6+2476insCTCTTTCTTTCCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681335	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	451	0.0022	17	c.-6+ others(32): Show c.-6+2537_-6+2538insCTTTCTTTCTTTCTTTC	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2			chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG02273.hp2 others(5): Show HG01261.hp1 HG01433.hp2 HG02273.hp2 HG02630.hp1 HG03017.hp2 NA18951.hp2 NA18968.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0002g0023 a0001c0001t0002g0109 others(1): Show a0001c0001t0001g0034 a0001c0001t0002g0023 a0001c0001t0002g0109 a0001c0001t0003g0033	8	74	0.1081	17	c.151 others(32): Show c.151-384_151-368dupAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG02273.hp2 others(5): Show HG01261.hp1 HG01433.hp2 HG02273.hp2 HG02630.hp1 HG03017.hp2 NA18951.hp2 NA18968.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0175 a0001c0001t0001g0273 a0001c0001t0002g0248 others(5): Show a0001c0001t0001g0175 a0001c0001t0001g0273 a0001c0001t0002g0248 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0338 a0001c0001t0003g0117 a0001c0001t0003g0120	8	69	0.1159	17	c.194 others(32): Show c.194-384_194-368dupAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TAGAGAGA others(10): Show TAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	44	0.0227	17	c.193 others(34): Show c.193+3527_193+3528insTCTCTCTCTCTCTCTCT	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990651	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	377	0.0027	17	c.193 others(34): Show c.193+3487_193+3488insCTCTCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	9	0.1111	17	c.-18 others(28): Show c.-1895_-1894insTTTTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDON_chr11_125951821_126067866	125971411	T T	TAAATAAA others(10): Show TAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01952.hp2 HG02293.hp1 others(1): Show HG01261.hp1 HG01952.hp2 HG02293.hp1 HG02572.hp1	a0002 a0003 a0002 a0003	a0002c0031 a0003c0005 a0002c0031 a0003c0005	a0002c0031t0094 a0003c0005t0002 a0002c0031t0094 a0003c0005t0002	a0002c0031t0094g0310 a0003c0005t0002g0160 a0003c0005t0002g0161 others(1): Show a0002c0031t0094g0310 a0003c0005t0002g0160 a0003c0005t0002g0161 a0003c0005t0002g0162	4	323	0.0124	17	c.335 others(36): Show c.3356+6892_3356+6893insTATTTATTTATTTATTT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125973018	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03239.hp2 HG00735.hp1 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0065 a0002c0002t0008 a0002c0002t0065	a0002c0002t0008g0266 a0002c0002t0065g0246 a0002c0002t0008g0266 a0002c0002t0065g0246	2	30	0.0667	17	c.335 others(36): Show c.3356+5269_3356+5285dupAAAAAAAAAAAAAAAAA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDPF1_chr22_46239013_46255293	46252951	T T	TCAGCAAA others(10): Show TCAGCAAATTGCAAAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	278	0.0036	17	c.-26 others(28): Show c.-2697_-2696insGGCTTTGCAATTTGCTG	CDPF1	ENSG00000205643.11	transcript	ENST00000314567.8	protein_coding		2659		chr22	TogoVar
CDR2L_chr17_74982632_75010800	74989410	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	2	0.5000	17	c.79+ others(32): Show c.79+1288_79+1289insCACACACACACACACAC	CDR2L	ENSG00000109089.7	transcript	ENST00000337231.5	protein_coding	1/4			chr17	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01081.hp2 HG01167.hp1 others(4): Show HG00733.hp2 HG01081.hp2 HG01167.hp1 HG01192.hp2 HG01952.hp2 HG02965.hp1 HG03927.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0102 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0102 a0001c0001t0001g0114 a0004c0004t0001g0007	7	12	0.5833	17	c.20 others(28): Show c.2024_*2025insTTTTTTTTTTTTTTTTT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding		266		chr17	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02896.hp2 HG01496.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	2	95	0.0211	17	c.317 others(34): Show c.317+1733_317+1749dupTTTTTTTTTTTTTTTTT	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDV3_chr3_133568686_133595261	133594433	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01255.hp2 HG01934.hp1 others(15): Show HG00733.hp2 HG01255.hp2 HG01934.hp1 HG02004.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp1 NA18960.hp2 NA18968.hp2 NA18983.hp2 NA18985.hp1 NA19007.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0088 a0001c0001t0012g0002	18	27	0.6667	17	c.63 others(28): Show c.6387_*6388insAAAAAAAAAAAAAAAAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4173		chr3	TogoVar
CDV3_chr3_133568686_133595261	133594454	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	384	0.0026	17	c.64 others(28): Show c.6408_*6409insAAAAAAAAAAAAAAAAC	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4194		chr3	TogoVar
CDYL_chr6_4771404_4960544	4788480	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	55	0.0182	17	c.24+ others(34): Show c.24+11679_24+11695dupAAAAAAAAAAAAAAAAA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4959971	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03453.hp1 HG02698.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0006	a0001c0001t0002g0068 a0001c0002t0006g0161 a0001c0001t0002g0068 a0001c0002t0006g0161	2	21	0.0952	17	c.59 others(28): Show c.5915_*5916insAAAAAAAAAAAAAAAAA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding		4428		chr6	TogoVar
CEACAM20_chr19_44501159_44534675	44528158	T T	TTTTCTTT others(10): Show TTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG03471.hp2 HG02622.hp2 HG02630.hp1 HG03471.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0286 a0010c0017t0001g0287 a0010c0017t0001g0319 a0010c0017t0001g0286 a0010c0017t0001g0287 a0010c0017t0001g0319	3	283	0.0106	17	c.52+ others(32): Show c.52+1299_52+1300insGGAAAGAAAGAAAGAAA	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	1/11			chr19	TogoVar
CEACAM7_chr19_41668303_41693270	41680729	C C	CTTAACAC others(10): Show CTTAACACCATATAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0165 a0001c0001t0002g0166	2	410	0.0049	17	c.706 others(34): Show c.706+3039_706+3055dupTTTTTATATGGTGTTAA	CEACAM7	ENSG00000007306.15	transcript	ENST00000401731.6	protein_coding	3/4			chr19	TogoVar
CECR2_chr22_17364460_17563151	17404364	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	214	0.0047	17	c.126 others(36): Show c.126+34458_126+34459insTTTTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17504504	T T	TCGGCTCA others(10): Show TCGGCTCACTGCAAGCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0309 a0001c0001t0013g0309	1	322	0.0031	17	c.701 others(32): Show c.701-340_701-324dupGCTCACTGCAAGCTCCG	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524387	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0142 a0003c0003t0001g0142	1	118	0.0085	17	c.110 others(34): Show c.1108+123_1108+139dupTTTTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17552774	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0073 a0003c0003t0006g0073	1	119	0.0084	17	c.439 others(32): Show c.4390-48_4390-47insTTTTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTGTTTTT others(10): Show GTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	68	0.0147	17	c.72- others(30): Show c.72-912_72-911insAAAAAAAAAAAAAAACA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00639.hp2 others(35): Show HG00438.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01071.hp1 HG01261.hp1 HG01978.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp2 HG02622.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18956.hp1 NA18959.hp2 NA18963.hp1 NA18966.hp1 NA18992.hp1 NA18998.hp1 NA19004.hp1 NA19011.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0028 a0001c0004t0002	a0001c0001t0001g0098 a0001c0001t0001g0143 a0001c0001t0002g0025 others(35): Show a0001c0001t0001g0098 a0001c0001t0001g0143 a0001c0001t0002g0025 a0001c0001t0002g0218 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0236 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0003g0043 a0001c0001t0003g0047 a0001c0001t0003g0054 a0001c0001t0003g0060 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0088 a0001c0001t0003g0194 a0001c0001t0003g0321 a0001c0001t0006g0114 a0001c0001t0017g0255 a0001c0001t0028g0034 a0001c0004t0002g0303	38	105	0.3619	17	c.72- others(30): Show c.72-928_72-912dupAAAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47489944	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18944.hp2 NA18993.hp1 others(1): Show HG02083.hp2 NA18944.hp2 NA18993.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 others(1): Show a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241	4	338	0.0118	17	c.72- others(30): Show c.72-921_72-920insGAAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11032146	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0100 a0001c0001t0041g0100	1	40	0.0250	17	c.74+ others(34): Show c.74+13992_74+14008dupAAAAAAAAAAAAAAAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11103487	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG02602.hp2 others(2): Show HG00558.hp2 HG00735.hp2 HG02602.hp2 NA18983.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0006t0019 a0001c0001t0001 a0001c0001t0006 a0001c0006t0019	a0001c0001t0001g0085 a0001c0001t0001g0177 a0001c0001t0001g0180 others(2): Show a0001c0001t0001g0085 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0006g0118 a0001c0006t0019g0191	5	40	0.1250	17	c.75- others(34): Show c.75-61995_75-61979dupTTTTTTTTTTTTTTTTT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107855	A A	ATCCCTTC others(10): Show ATCCCTTCTCCCATCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02280.hp1 others(6): Show HG01891.hp1 HG02258.hp2 HG02280.hp1 HG02647.hp2 HG02965.hp1 HG03130.hp1 HG03225.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0024 a0001c0001t0046 a0001c0002t0002 a0001c0002t0013 a0001c0004t0001	a0001c0001t0001g0031 a0001c0001t0003g0062 a0001c0001t0003g0171 others(6): Show a0001c0001t0001g0031 a0001c0001t0003g0062 a0001c0001t0003g0171 a0001c0001t0020g0076 a0001c0001t0024g0012 a0001c0001t0046g0069 a0001c0002t0002g0011 a0001c0002t0013g0040 a0001c0004t0001g0077	9	152	0.0592	17	c.75- others(34): Show c.75-57623_75-57622insCCCATCTCCTCCCTTCT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11107864	A A	ACCATCTC others(10): Show ACCATCTCCTCCCTTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01433.hp1 HG01981.hp2 HG00621.hp1 HG01433.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002	a0001c0001t0027g0192 a0001c0002t0001g0112 a0001c0002t0002g0090 a0001c0001t0027g0192 a0001c0002t0001g0112 a0001c0002t0002g0090	3	78	0.0385	17	c.75- others(34): Show c.75-57583_75-57567dupCTCCTCCCTTCTCCCAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar

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