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
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	46	0.0217	19	c.142 others(38): Show c.1428-1156_1428-1155insATATATATATATTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp1 HG02280.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0312 a0001c0001t0001g0187 a0001c0001t0001g0312	2	47	0.0426	19	c.142 others(38): Show c.1428-1156_1428-1155insATATATATATTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762059	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	327	0.0031	19	c.142 others(38): Show c.1428-1156_1428-1155insATATATATATATATATATA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21			chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244625430	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19062.hp1 HG01934.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0051 a0001c0002t0003g0158 a0001c0001t0002g0051 a0001c0002t0003g0158	2	141	0.0142	19	c.264 others(38): Show c.2648+7745_2648+7746insTTTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02257.hp2 NA19060.hp2 HG00408.hp2 HG02257.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001	a0001c0001t0003g0180 a0001c0002t0001g0046 a0001c0003t0001g0045 a0001c0001t0003g0180 a0001c0002t0001g0046 a0001c0003t0001g0045	3	8	0.3750	19	c.264 others(38): Show c.2648+7747_2648+7748insATATATTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01978.hp2 HG02109.hp1 others(3): Show HG00323.hp2 HG01978.hp2 HG02109.hp1 HG03654.hp2 NA18948.hp1 NA18982.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0003c0005t0003	a0001c0001t0001g0028 a0001c0001t0001g0092 a0001c0001t0002g0099 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0092 a0001c0001t0002g0099 a0001c0001t0003g0164 a0001c0002t0004g0187 a0003c0005t0003g0153	6	11	0.5455	19	c.264 others(38): Show c.2648+7747_2648+7748insATATTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19089.hp1 NA18984.hp1 NA19089.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0010c0012t0002 a0001c0001t0001 a0010c0012t0002	a0001c0001t0001g0113 a0010c0012t0002g0037 a0001c0001t0001g0113 a0010c0012t0002g0037	2	7	0.2857	19	c.264 others(38): Show c.2648+7747_2648+7748insATTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02683.hp1 HG03492.hp1 HG00323.hp1 HG02683.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0003g0196 a0001c0002t0001g0032 a0001c0002t0002g0039 a0001c0001t0003g0196 a0001c0002t0001g0032 a0001c0002t0002g0039	3	8	0.3750	19	c.264 others(38): Show c.2648+7761_2648+7762insTTTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	119	0.0084	19	c.195 others(36): Show c.195+7707_195+7708insATATATATATATTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	119	0.0084	19	c.195 others(36): Show c.195+7707_195+7708insATATATATATTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03490.hp2 HG03710.hp2 HG02080.hp2 HG03490.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0027 a0001c0001t0002g0194 a0001c0001t0003g0237 a0001c0001t0002g0027 a0001c0001t0002g0194 a0001c0001t0003g0237	3	121	0.0248	19	c.195 others(36): Show c.195+7707_195+7708insATATATATTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp2 HG01515.hp1 others(5): Show HG01123.hp2 HG01255.hp2 HG01515.hp1 HG01993.hp1 HG02004.hp2 HG03492.hp1 NA18977.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0002g0027 a0001c0001t0002g0126 a0001c0001t0002g0168 a0001c0001t0013g0004	8	126	0.0635	19	c.195 others(36): Show c.195+7707_195+7708insATATATTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	119	0.0084	19	c.195 others(36): Show c.195+7707_195+7708insATATTTTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116546697	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00609.hp1 others(20): Show HG00323.hp2 HG00597.hp2 HG00609.hp1 HG01081.hp2 HG01496.hp2 HG02027.hp1 HG02080.hp1 HG02109.hp1 HG02723.hp2 HG03710.hp2 HG04115.hp1 NA18612.hp1 NA18747.hp2 NA18950.hp2 NA18953.hp1 NA18961.hp1 NA18970.hp1 NA18971.hp2 NA18994.hp2 NA19010.hp2 NA19056.hp1 NA19077.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0002t0009	a0001c0001t0002g0207 a0001c0001t0003g0022 a0001c0001t0003g0038 others(18): Show a0001c0001t0002g0207 a0001c0001t0003g0022 a0001c0001t0003g0038 a0001c0001t0003g0118 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0212 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0237 a0001c0001t0004g0153 a0001c0001t0008g0069 a0001c0001t0009g0070 a0001c0002t0009g0196	23	170	0.1353	19	c.196 others(38): Show c.196-12232_196-12231insAAAAAAAAAAAAAAAAAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42411207	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG01346.hp2 others(8): Show HG00408.hp2 HG00621.hp2 HG01346.hp2 HG01981.hp2 HG02129.hp1 HG03209.hp1 HG04204.hp1 NA18612.hp2 NA19007.hp2 NA19082.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016	a0001c0001t0002g0031 a0001c0001t0002g0101 a0001c0001t0002g0232 others(7): Show a0001c0001t0002g0031 a0001c0001t0002g0101 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0269 a0001c0001t0004g0108 a0001c0001t0004g0121 a0001c0001t0004g0169 a0001c0001t0006g0151 a0001c0001t0016g0272	11	245	0.0449	19	c.472 others(36): Show c.472-5820_472-5819insGTTTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33494274	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	284	0.0035	19	c.34+ others(34): Show c.34+3973_34+3974insATATATATATATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10			chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88888558	A A	GGGGGTGG others(12): Show GGGGGTGGGGTGGGGTGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0283 a0001c0002t0035g0283	1	266	0.0038	19	c.712 others(36): Show c.712-2416_712-2415insCCCACCCCACCCCACCCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88889287	G G	GGGAGGAG others(12): Show GGGAGGAGGGATGGAGCGAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02970.hp2 others(1): Show HG02723.hp2 HG02886.hp1 HG02970.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0012 a0001c0005t0028 a0001c0008t0014 others(1): Show a0001c0005t0012 a0001c0005t0028 a0001c0008t0014 a0001c0008t0032	a0001c0005t0012g0237 a0001c0005t0028g0196 a0001c0008t0014g0166 others(1): Show a0001c0005t0012g0237 a0001c0005t0028g0196 a0001c0008t0014g0166 a0001c0008t0032g0142	4	282	0.0142	19	c.711 others(36): Show c.711+2576_711+2594dupATCGCTCCATCCCTCCTCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88905881	G G	GACCCATG others(12): Show GACCCATGGCTGCCCTGGAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03579.hp2 HG02886.hp1 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0028 a0001c0005t0012 a0001c0005t0028	a0001c0005t0012g0237 a0001c0005t0028g0196 a0001c0005t0012g0237 a0001c0005t0028g0196	2	282	0.0071	19	c.152 others(36): Show c.152-4244_152-4226dupGTCCAGGGCAGCCATGGGT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954419	C C	CCCAAGGC others(12): Show CCCAAGGCTGCTGACCCCAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG02486.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0242 a0001c0001t0001g0051 a0001c0001t0001g0242	2	282	0.0071	19	c.151 others(38): Show c.151+22237_151+22238insCTGGGGTCAGCAGCCTTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88954514	G G	GCCAAGAC others(12): Show GCCAAGACTCCTGACCCCAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	281	0.0036	19	c.151 others(38): Show c.151+22142_151+22143insGTGGGGTCAGGAGTCTTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955787	G G	GCCAAGAC others(12): Show GCCAAGACTCCTGACCCCAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	280	0.0036	19	c.151 others(38): Show c.151+20869_151+20870insGTGGGGTCAGGAGTCTTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955958	G G	GCCAAGGC others(12): Show GCCAAGGCTCCTGACCCCGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0011 a0001c0001t0001 a0001c0001t0002 a0001c0003t0011	a0001c0001t0001g0110 a0001c0001t0002g0263 a0001c0003t0011g0008 a0001c0001t0001g0110 a0001c0001t0002g0263 a0001c0003t0011g0008	3	280	0.0107	19	c.151 others(38): Show c.151+20680_151+20698dupGCGGGGTCAGGAGCCTTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFB_chr16_67024149_67106058	67055357	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0187 a0001c0001t0009g0187	1	108	0.0093	19	c.283 others(38): Show c.283-11316_283-11298dupTTTTTTTTTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67066393	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02074.hp1 HG02080.hp1 others(4): Show HG00609.hp1 HG02074.hp1 HG02080.hp1 HG02717.hp1 HG04199.hp1 NA19078.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0014 a0001c0001t0001 a0001c0002t0003 a0001c0002t0014	a0001c0001t0001g0064 a0001c0002t0003g0038 a0001c0002t0003g0039 others(4): Show a0001c0001t0001g0064 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0044 a0001c0002t0003g0047 a0001c0002t0003g0052 a0001c0002t0014g0032	7	56	0.1250	19	c.283 others(34): Show c.283-272_283-271insAAAAAAAAAAAAAAAAAAA	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67092696	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0189 a0001c0001t0005g0189	1	201	0.0050	19	c.496 others(36): Show c.496-6013_496-6012insTTTTTTTTTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLC_chr19_44772890_44805652	44784950	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	125	0.0080	19	c.917 others(34): Show c.917+570_917+588dupTTTTTTTTTTTTTTTTTTT	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLL2_chrX_22267913_22279461	22271960	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA18522.hp1 HG01891.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	6	0.3333	19	c.-10 others(30): Show c.-1032_-1031insTTTTTTTTTTTTTTTTTTT	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding		952		chrX	TogoVar
CBL_chr11_119201339_119313149	119244581	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00738.hp1 others(27): Show HG00609.hp1 HG00621.hp1 HG00738.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01891.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02257.hp1 HG02717.hp1 HG03453.hp1 HG04204.hp1 NA18747.hp2 NA18950.hp1 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19062.hp2 NA19063.hp2 NA19086.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0026 a0001c0001t0029 a0001c0001t0058 a0003c0005t0008	a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0154 others(27): Show a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0253 a0001c0001t0009g0179 a0001c0001t0016g0182 a0001c0001t0026g0228 a0001c0001t0029g0156 a0001c0001t0058g0018 a0003c0005t0008g0342	30	229	0.1310	19	c.443 others(38): Show c.443+11904_443+11905insTTTTTTTTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119283625	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19054.hp1 HG02132.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0161 a0001c0001t0007g0125 a0001c0001t0001g0161 a0001c0001t0007g0125	2	33	0.0606	19	c.143 others(38): Show c.1432-1332_1432-1314dupTTTTTTTTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR3_chr21_36130079_36151562	36146917	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19088.hp1 NA19030.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0134 a0002c0002t0001g0027 a0002c0002t0001g0134	2	119	0.0168	19	c.40 others(28): Show c.405_*406insTTTTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		356		chr21	TogoVar
CBX1_chr17_48065059_48106478	48073824	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01358.hp1 HG02074.hp2 others(5): Show HG00423.hp2 HG01358.hp1 HG02074.hp2 HG02818.hp2 HG03831.hp2 HG03834.hp2 NA18968.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0083 a0001c0001t0002g0091 others(5): Show a0001c0001t0002g0075 a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0117	8	34	0.2353	19	c.413 others(36): Show c.413+1163_413+1181dupTTTTTTTTTTTTTTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	4/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080951	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	241	0.0041	19	c.-37 others(36): Show c.-37-3911_-37-3910insATATATATATTTTTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX7_chr22_39125772_39157680	39144669	T T	TCGTGCTC others(12): Show TCGTGCTCCTCTCTCCACAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0193 a0001c0001t0028g0193	1	378	0.0026	19	c.114 others(36): Show c.114-3252_114-3234dupCTGTGGAGAGAGGAGCACG	CBX7	ENSG00000100307.13	transcript	ENST00000216133.10	protein_coding	2/5			chr22	TogoVar
CCBE1_chr18_59425939_59702423	59522993	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01496.hp2 HG02615.hp2 others(1): Show HG01069.hp2 HG01496.hp2 HG02615.hp2 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0086 a0001c0001t0001g0225 a0001c0001t0001g0242 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0225 a0001c0001t0001g0242 a0002c0002t0001g0003	4	77	0.0519	19	c.213 others(38): Show c.213-42774_213-42756dupTTTTTTTTTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59551023	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0006 a0001c0001t0058g0006	1	237	0.0042	19	c.213 others(38): Show c.213-70786_213-70785insCTTTTTTCTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59613886	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	222	0.0045	19	c.212 others(38): Show c.212+82742_212+82743insCAAAAAAAAAAAAAAAAAA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658354	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0114 a0001c0001t0007g0114	1	159	0.0063	19	c.212 others(38): Show c.212+38274_212+38275insATATTTTTTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658354	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	159	0.0063	19	c.212 others(38): Show c.212+38274_212+38275insATATATATTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68853672	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03017.hp2 HG01081.hp2 HG03017.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0002 a0003c0004t0001g0165 a0003c0004t0001g0002 a0003c0004t0001g0165	2	6	0.3333	19	c.936 others(36): Show c.936+7263_936+7281dupAAAAAAAAAAAAAAAAAAA	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC113_chr16_58244936_58288836	58257014	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0055 a0001c0001t0033g0055	1	112	0.0089	19	c.391 others(36): Show c.391-1351_391-1333dupTTTTTTTTTTTTTTTTTTT	CCDC113	ENSG00000103021.10	transcript	ENST00000219299.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC122_chr13_43831352_43884740	43879809	G G	GAGGCGAG others(12): Show GAGGCGAGGCGGGGCGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA18957.hp1 NA19057.hp2 HG00609.hp2 NA18957.hp1 NA19057.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0018 a0002c0003t0001g0177 a0002c0003t0001g0234 a0002c0003t0001g0018 a0002c0003t0001g0177 a0002c0003t0001g0234	3	352	0.0085	19	c.-37 others(28): Show c.-379_-378insACCTCGCCCCGCCTCGCCT	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		70		chr13	TogoVar
CCDC125_chr5_69275175_69337801	69334793	G G	GTGAGAGA others(12): Show GTGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	146	0.0068	19	c.-21 others(30): Show c.-2186_-2185insTCTCTCTCTCTCTCTCTCA	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding		1993		chr5	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	43	0.0233	19	c.97- others(36): Show c.97-10734_97-10733insATATATATATATATTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46962434	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	18	0.0556	19	c.96+ others(36): Show c.96+14184_96+14202dupTTTTTTTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC134_chr22_41795679_41837164	41819963	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0056 a0001c0001t0015g0056	1	154	0.0065	19	c.565 others(36): Show c.565-5735_565-5734insATATATATATATATATATA	CCDC134	ENSG00000100147.14	transcript	ENST00000255784.6	protein_coding	6/6			chr22	TogoVar
CCDC138_chr2_108781771_108881578	108787610	A A	ATAAAATT others(12): Show ATAAAATTTTTTCCTTGGGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	218	0.0046	19	c.94- others(32): Show c.94-422_94-421insTAAAATTTTTTCCTTGGGT	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	1/14			chr2	TogoVar
CCDC141_chr2_178824757_179055137	178870231	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02572.hp1 HG02630.hp2 HG01361.hp1 HG02572.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0015 a0002c0003t0015 a0001c0001t0015 a0002c0003t0015	a0001c0001t0015g0144 a0002c0003t0015g0231 a0002c0003t0015g0232 a0001c0001t0015g0144 a0002c0003t0015g0231 a0002c0003t0015g0232	3	52	0.0577	19	c.220 others(36): Show c.2206-945_2206-927dupTTTTTTTTTTTTTTTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	14/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	179027646	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0016 a0005c0008t0016	a0005c0008t0016g0119 a0005c0008t0016g0119	1	2	0.5000	19	c.225 others(38): Show c.225+19619_225+19637dupTTTTTTTTTTTTTTTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC144A_chr17_16685241_16782881	16711136	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01123.hp1 others(11): Show HG01070.hp1 HG01081.hp1 HG01123.hp1 HG01884.hp1 HG02071.hp1 HG02976.hp2 HG03471.hp1 HG03579.hp1 NA18948.hp1 NA18978.hp2 NA18994.hp1 NA19054.hp1 NA19062.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 others(11): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0008g0015	14	165	0.0848	19	c.157 others(36): Show c.1579-539_1579-521dupAAAAAAAAAAAAAAAAAAA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr17	TogoVar

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