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
CDH12_chr5_21745673_22858344	22489056	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0046 a0001c0002t0003g0046	1	4	0.2500	31	c.-42 others(52): Show c.-428+16213_-428+16214insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	2/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22529066	T T	TATATATG others(24): Show TATATATGCATATATATGCATGCAAAACATGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	60	0.0167	31	c.-52 others(52): Show c.-522-23733_-522-23703dupTCATGTTTTGCATGCATATATATG CATATAT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14			chr5	TogoVar
CDH13_chr16_82621969_83805640	82662229	A A	AATGTGAA others(24): Show AATGTGAACATTTTTATCATCTGCAACATTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03209.hp1 HG01099.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0009 a0001c0001t0007 a0001c0002t0009	a0001c0001t0007g0009 a0001c0002t0009g0097 a0001c0001t0007g0009 a0001c0002t0009g0097	2	110	0.0182	31	c.45+ others(48): Show c.45+35093_45+35094insTGTGAACATTTTTATCATCTGCAACATT TTA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	82804184	C C	CTGCACTC others(24): Show CTGCACTCCAGCCTGGTGACAGAGTGAGCTGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01255.hp1 others(22): Show HG00639.hp2 HG00642.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03669.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0014 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0036 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0003t0004 a0001c0005t0014 a0001c0011t0035 a0001c0014t0046 a0003c0015t0004	a0001c0001t0001g0060 a0001c0001t0002g0020 a0001c0001t0002g0039 others(22): Show a0001c0001t0001g0060 a0001c0001t0002g0020 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0003g0010 a0001c0001t0003g0101 a0001c0001t0005g0081 a0001c0001t0008g0049 a0001c0001t0011g0041 a0001c0001t0018g0015 a0001c0001t0021g0078 a0001c0001t0023g0052 a0001c0001t0027g0082 a0001c0001t0036g0005 a0001c0002t0002g0011 a0001c0002t0005g0064 a0001c0002t0006g0100 a0001c0002t0007g0065 a0001c0002t0009g0102 a0001c0003t0004g0071 a0001c0003t0004g0106 a0001c0005t0014g0008 a0001c0011t0035g0013 a0001c0014t0046g0027 a0003c0015t0004g0043	25	109	0.2294	31	c.46- others(48): Show c.46-54178_46-54177insTGCACTCCAGCCTGGTGACAGAGTGAGC TGA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13			chr16	TogoVar
CDH13_chr16_82621969_83805640	82804184	C C	CTGCATTC others(24): Show CTGCATTCCAGCCTGGTGACAGAGTGAGCTGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0051 a0001c0001t0033g0051	1	85	0.0118	31	c.46- others(48): Show c.46-54178_46-54177insTGCATTCCAGCCTGGTGACAGAGTGAGC TGA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13			chr16	TogoVar
CDH13_chr16_82621969_83805640	83179481	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	37	0.0270	31	c.484 others(50): Show c.484-37843_484-37842insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH1_chr16_68732292_68840537	68745611	A A	ATATATAT others(24): Show ATATATATATATGTGTAATATATGTATGTGTG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	185	0.0054	31	c.163 others(48): Show c.163+7211_163+7212insGTGTAATATATGTATGTGTGTATATATA TAT	CDH1	ENSG00000039068.20	transcript	ENST00000261769.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH20_chr18_61328430_61560779	61527366	A A	AATAGATA others(24): Show AATAGATAGATAGATAGATAGATAGATGATAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18971.hp2 NA18959.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0108 a0001c0002t0005g0153 a0001c0002t0003g0108 a0001c0002t0005g0153	2	109	0.0183	31	c.101 others(48): Show c.1018-575_1018-574insGATAGATAGATAGATAGATAGATAGATA GAT	CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH4_chr20_61247261_61945617	61290012	C C	CGAGACTT others(24): Show CGAGACTTGCTGGGTTTATCCCCGTATCCAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG02109.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0003 a0002c0008t0003 a0002c0002t0003 a0002c0008t0003	a0002c0002t0003g0067 a0002c0008t0003g0041 a0002c0002t0003g0067 a0002c0008t0003g0041	2	37	0.0541	31	c.169 others(50): Show c.169+35283_169+35313dupCGTATCCAATGAGACTTGCTGGGTTT ATCCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61290180	G G	GTTTATCC others(24): Show GTTTATCCCGATATCCAATGAGACTTGCTGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG04115.hp1 HG00639.hp1 HG01081.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0029 a0002c0005t0004 a0001c0001t0001 a0001c0003t0029 a0002c0005t0004	a0001c0001t0001g0046 a0001c0003t0029g0040 a0002c0005t0004g0048 a0001c0001t0001g0046 a0001c0003t0029g0040 a0002c0005t0004g0048	3	75	0.0400	31	c.169 others(50): Show c.169+35251_169+35252insGATATCCAATGAGACTTGCTGGATTT ATCCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61290273	A A	ATTTATCC others(24): Show ATTTATCCCCGTATCCAATGAGACTTGCTGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01884.hp2 HG03579.hp2 others(2): Show HG00408.hp1 HG01884.hp2 HG03579.hp2 HG04204.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0009 others(1): Show a0001c0001 a0001c0010 a0002c0009 a0002c0015	a0001c0001t0002 a0001c0010t0001 a0002c0009t0031 others(2): Show a0001c0001t0002 a0001c0010t0001 a0002c0009t0031 a0002c0009t0032 a0002c0015t0007	a0001c0001t0002g0007 a0001c0010t0001g0027 a0002c0009t0031g0009 others(2): Show a0001c0001t0002g0007 a0001c0010t0001g0027 a0002c0009t0031g0009 a0002c0009t0032g0026 a0002c0015t0007g0025	5	82	0.0610	31	c.169 others(50): Show c.169+35376_169+35406dupCGTATCCAATGAGACTTGCTGGGTTT ATCCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61290345	A A	ATATCCAA others(24): Show ATATCCAATGAGACTTGCTGGATTTATCCCCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0091 a0001c0001t0018g0091	1	86	0.0116	31	c.169 others(50): Show c.169+35429_169+35459dupATTTATCCCCGTATCCAATGAGACTT GCTGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61290366	A A	ATTTATCC others(24): Show ATTTATCCCCGTATCCAATGAGACTTGCTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG01243.hp1 HG02559.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0010 a0002c0004t0001g0011	2	96	0.0208	31	c.169 others(50): Show c.169+35469_169+35499dupCGTATCCAATGAGACTTGCTGGGTTT ATCCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61290397	G G	GTTTATCC others(24): Show GTTTATCCCGATATCCAATGAGACTTGCTGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19240.hp2 HG00423.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0019 a0001c0001 a0005c0019	a0001c0001t0013 a0005c0019t0001 a0001c0001t0013 a0005c0019t0001	a0001c0001t0013g0106 a0005c0019t0001g0018 a0001c0001t0013g0106 a0005c0019t0001g0018	2	97	0.0206	31	c.169 others(50): Show c.169+35468_169+35469insGATATCCAATGAGACTTGCTGGATTT ATCCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61730904	T T	TGGGATGG others(24): Show TGGGATGGATTGGGTCAGGCAGGATTGGGGTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0031 a0002c0009t0031	a0002c0009t0031g0009 a0002c0009t0031g0009	1	62	0.0161	31	c.170 others(50): Show c.170-12645_170-12644insCAGGCAGGATTGGGGTCGGGATGGAT TGGGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDHR5_chr11_611583_629955	627171	G G	GCTGCGGC others(24): Show GCTGCGGCCACGGCCCCGGGCCCCCGCAAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	31	c.-22 others(42): Show c.-2270_-2269insGCCTTGCGGGGGCCCGGGGCCGTGGCCGCAG	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding		2217		chr11	TogoVar
CDHR5_chr11_611583_629955	627958	T T	TGTTCACA others(24): Show TGTTCACAGACGCTCCCGTCCTCCCAAAATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0108 a0002c0031t0001g0108	1	401	0.0025	31	c.-30 others(42): Show c.-3057_-3056insGGATTTTGGGAGGACGGGAGCGTCTGTGAAC	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding		3004		chr11	TogoVar
CDHR5_chr11_611583_629955	628897	T T	TTTTCTTT others(24): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	376	0.0027	31	c.-39 others(42): Show c.-3996_-3995insGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding		3943		chr11	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02004.hp2 HG02027.hp2 others(8): Show HG00323.hp1 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp1 NA18966.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0001t0034 a0001c0001t0044	a0001c0001t0001g0186 a0001c0001t0001g0213 a0001c0001t0002g0279 others(8): Show a0001c0001t0001g0186 a0001c0001t0001g0213 a0001c0001t0002g0279 a0001c0001t0004g0197 a0001c0001t0005g0150 a0001c0001t0005g0276 a0001c0001t0020g0075 a0001c0001t0024g0270 a0001c0001t0028g0060 a0001c0001t0034g0153 a0001c0001t0044g0254	11	156	0.0705	31	c.100 others(50): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK19_chr6_110604978_110820469	110805563	T T	TGCAGTTG others(24): Show TGCAGTTGGCCCTGGAGAACCCACCTATACAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG03195.hp2 others(1): Show HG02258.hp2 HG02572.hp1 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0025 a0001c0001t0011 a0001c0001t0025	a0001c0001t0011g0133 a0001c0001t0011g0135 a0001c0001t0011g0136 others(1): Show a0001c0001t0011g0133 a0001c0001t0011g0135 a0001c0001t0011g0136 a0001c0001t0025g0134	4	298	0.0134	31	c.128 others(48): Show c.128+9415_128+9445dupTTGTATAGGTGGGTTCTCCAGGGCCAAC TGC	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110806957	G G	GGGGGGGG others(24): Show GGGGGGGGGGGGTGGGGGGGGGTAGGGGAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	298	0.0034	31	c.128 others(48): Show c.128+8051_128+8052insTTTTCCCCTACCCCCCCCCACCCCCCCC CCC	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK5RAP2_chr9_120383875_120585167	120520803	C C	CTCATATG others(24): Show CTCATATGAGCTGTATCTCATATATATCTCAT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19082.hp2 NA19078.hp1 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0191 a0004c0004t0001g0073 a0001c0001t0001g0191 a0004c0004t0001g0073	2	71	0.0282	31	c.109 others(50): Show c.1093-2159_1093-2158insATGAGATATATATGAGATACAGCTCA TATGA	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	11/37			chr9	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0056 a0002c0003t0002g0056	1	145	0.0069	31	c.105 others(50): Show c.1055+2971_1055+2972insTATATATATATATATATATATATATA TATAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15			chr6	TogoVar
CDKL2_chr4_75571496_75635528	75614912	A A	ACATATAT others(24): Show ACATATATATAGTATATATATATATGTATATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp1 HG02145.hp1 others(5): Show HG00323.hp1 HG01243.hp1 HG02145.hp1 HG02809.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0009 a0003c0003t0009 others(1): Show a0001c0001t0003 a0001c0001t0009 a0003c0003t0009 a0003c0003t0022	a0001c0001t0003g0043 a0001c0001t0009g0091 a0001c0001t0009g0092 others(5): Show a0001c0001t0003g0043 a0001c0001t0009g0091 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0096 a0003c0003t0009g0099 a0003c0003t0022g0101	8	263	0.0304	31	c.169 others(46): Show c.169-494_169-464dupAATATACATATATATATATACTATATATAT G	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	2/13			chr4	TogoVar
CDKN1A_chr6_36673714_36692332	36681264	T T	TTTTCTTT others(24): Show TTTTCTTTCTCTCTTTCTTCCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	321	0.0031	31	c.-6+ others(46): Show c.-6+2475_-6+2476insCTCTTTCTTCCTTCTTTCTTTCTTTCTTTC T	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681277	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0250 a0001c0005t0001g0250	1	431	0.0023	31	c.-6+ others(46): Show c.-6+2481_-6+2482insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02723.hp1 HG02818.hp1 others(4): Show HG02027.hp1 HG02723.hp1 HG02818.hp1 NA18967.hp1 NA18979.hp2 NA19009.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0064 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0064 a0001c0001t0001g0134 a0001c0001t0002g0146	7	73	0.0959	31	c.151 others(46): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02723.hp1 HG02818.hp1 others(4): Show HG02027.hp1 HG02723.hp1 HG02818.hp1 NA18967.hp1 NA18979.hp2 NA19056.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0001g0178 a0001c0001t0001g0194 others(4): Show a0001c0001t0001g0125 a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0245 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0002g0353	7	68	0.1029	31	c.194 others(46): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990651	A A	AGAGAGAG others(24): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	377	0.0027	31	c.193 others(48): Show c.193+3487_193+3488insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA19087.hp1 NA18942.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	10	0.2000	31	c.-18 others(42): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDON_chr11_125951821_126067866	126053736	T T	TCCCCATA others(24): Show TCCCCATACCCACTCTCATACTCTCATAGTCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG02976.hp2 others(2): Show HG01109.hp2 HG02559.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2	a0002 a0008 a0013 others(1): Show a0002 a0008 a0013 a0025	a0002c0013 a0008c0008 a0013c0060 others(2): Show a0002c0013 a0008c0008 a0013c0060 a0013c0062 a0025c0069	a0002c0013t0098 a0008c0008t0084 a0013c0060t0017 others(2): Show a0002c0013t0098 a0008c0008t0084 a0013c0060t0017 a0013c0062t0097 a0025c0069t0080	a0002c0013t0098g0308 a0008c0008t0084g0270 a0013c0060t0017g0038 others(2): Show a0002c0013t0098g0308 a0008c0008t0084g0270 a0013c0060t0017g0038 a0013c0062t0097g0307 a0025c0069t0080g0269	5	332	0.0151	31	c.-62 others(48): Show c.-62+8812_-62+8842dupTGACTATGAGAGTATGAGAGTGGGTATG GGG	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	1/19			chr11	TogoVar
CDRT4_chr17_15431015_15472621	15465265	C C	CACACACC others(24): Show CACACACCAACACAAACACACACCAACACCAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	428	0.0023	31	c.-13 others(50): Show c.-130+2164_-130+2194dupCTGGTGTTGGTGTGTGTTTGTGTTGG TGTGT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding	1/3			chr17	TogoVar
CDYL2_chr16_80592907_80809598	80759118	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATGGTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0069 a0001c0005t0069	a0001c0005t0069g0252 a0001c0005t0069g0252	1	244	0.0041	31	c.24+ others(48): Show c.24+45031_24+45032insAACCATATATATATATATATATATATAT ATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80759120	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATGGTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0010 a0001c0003t0005g0010	1	247	0.0040	31	c.24+ others(48): Show c.24+45029_24+45030insAACCATATATATATATATATATATATAT ATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80759122	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATGGTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0121 a0001c0004t0009g0121	1	248	0.0040	31	c.24+ others(48): Show c.24+45027_24+45028insAAAACCATATATATATATATATATATAT ATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80759124	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATGGTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp1 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0037 a0001c0003t0002 a0001c0001t0037 a0001c0003t0002	a0001c0001t0037g0119 a0001c0003t0002g0116 a0001c0001t0037g0119 a0001c0003t0002g0116	2	256	0.0078	31	c.24+ others(48): Show c.24+45025_24+45026insAAAACCATATATATATATATATATATAT ATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CEACAM20_chr19_44501159_44534675	44518106	G G	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19068.hp1 NA19063.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0201 a0001c0013t0001g0123 a0001c0001t0001g0201 a0001c0013t0001g0123	2	436	0.0046	31	c.103 others(48): Show c.1031-883_1031-882insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11			chr19	TogoVar
CEBPA_chr19_33294934_33307534	33302612	C C	CGGGGGGG others(24): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	31	c.-19 others(40): Show c.-199_-198insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	CEBPA	ENSG00000245848.3	transcript	ENST00000498907.3	protein_coding		79		chr19	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	68	0.0147	31	c.72- others(44): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	8	0.1250	31	c.272 others(50): Show c.272-20398_272-20397insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197026	A A	AAGGAAGG others(24): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03130.hp1 HG03130.hp2 others(2): Show HG02922.hp2 HG03130.hp1 HG03130.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0025 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0025 a0001c0002t0005 a0001c0002t0013	a0001c0001t0003g0007 a0001c0001t0005g0006 a0001c0001t0025g0065 others(2): Show a0001c0001t0003g0007 a0001c0001t0005g0006 a0001c0001t0025g0065 a0001c0002t0005g0005 a0001c0002t0013g0040	5	188	0.0266	31	c.272 others(50): Show c.272-20398_272-20397insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3299553	C C	CTTCTTCT others(24): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	227	0.0044	31	c.28 others(42): Show c.2836_*2837insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2478		chr19	TogoVar
CELF5_chr19_3219661_3302076	3299578	T T	TTCTTCTT others(24): Show TTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0240 a0001c0001t0005g0240	1	243	0.0041	31	c.28 others(42): Show c.2861_*2862insTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTC	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2503		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46449342	A A	ACATCCAT others(24): Show ACATCCATCCAACCACCCATCACACATCCATC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0044 a0044	a0044c0067 a0044c0067	a0044c0067t0001 a0044c0067t0001	a0044c0067t0001g0102 a0044c0067t0001g0102	1	101	0.0099	31	c.418 others(50): Show c.4184-9962_4184-9932dupGATGGATGTGTGATGGGTGGTTGGAT GGATG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	2/34			chr22	TogoVar
CEMP1_chr16_2525035_2536408	2533430	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	13	0.0769	31	c.-23 others(42): Show c.-2358_-2357insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2023		chr16	TogoVar
CENPI_chrX_101093204_101171126	101162473	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0265 a0001c0002t0005g0265	1	147	0.0068	31	c.213 others(48): Show c.2137-360_2137-359insTATATATATATATATATATATATATATA TAT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	21/21			chrX	TogoVar
CENPJ_chr13_24877279_24927861	24881696	A A	ATAGATTA others(24): Show ATAGATTATCTAGGTATATAGATATATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0175 a0002c0003t0003g0175	1	438	0.0023	31	c.14 others(42): Show c.1480_*1481insGATAGATATATCTATATACCTAGATAATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		582		chr13	TogoVar
CENPL_chr1_173794550_173829883	173815434	T T	TGGCATCT others(24): Show TGGCATCTGAATACTGGCAATAAAAATACTGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	356	0.0028	31	c.-7- others(46): Show c.-7-4129_-7-4128insCCAGTATTTTTATTGCCAGTATTCAGATGC C	CENPL	ENSG00000120334.16	transcript	ENST00000682279.1	protein_coding	2/5			chr1	TogoVar
CENPO_chr2_24788425_24827376	24817466	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0261 a0001c0003t0020g0261	1	55	0.0182	31	c.767 others(46): Show c.767-194_767-193insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CENPX_chr17_82013703_82027878	82016091	C C	CTGGGGCT others(24): Show CTGGGGCTGGGGATGTAAACCAGCCTTAATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	31	c.31 others(42): Show c.3113_*3114insTGATTAAGGCTGGTTTACATCCCCAGCCCCA	CENPX	ENSG00000169689.15	transcript	ENST00000392359.8	protein_coding		2611		chr17	TogoVar

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