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
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00733.hp2 others(26): Show HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01168.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp2 HG01496.hp2 HG01517.hp2 HG01981.hp1 HG01981.hp2 HG02155.hp2 HG02559.hp1 HG02683.hp1 HG02896.hp2 HG03239.hp1 HG03471.hp2 HG03831.hp1 HG06807.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA19066.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027 a0001c0001t0034 a0001c0001t0050 a0001c0001t0051 a0001c0001t0071 a0001c0001t0072 a0001c0001t0084	a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0086 others(26): Show a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0187 a0001c0001t0002g0109 a0001c0001t0002g0152 a0001c0001t0007g0116 a0001c0001t0007g0119 a0001c0001t0007g0144 a0001c0001t0011g0084 a0001c0001t0016g0178 a0001c0001t0016g0180 a0001c0001t0018g0078 a0001c0001t0027g0103 a0001c0001t0027g0121 a0001c0001t0034g0105 a0001c0001t0050g0216 a0001c0001t0051g0074 a0001c0001t0071g0107 a0001c0001t0072g0066 a0001c0001t0084g0177	29	55	0.5273	22	c.-19 others(33): Show c.-1912_-1911insAAAAAAAAAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026189	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG03486.hp2 HG01074.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0179 a0001c0002t0033g0181 a0001c0002t0033g0179 a0001c0002t0033g0181	2	143	0.0140	22	c.15 others(33): Show c.1507_*1508insTTTTTTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1508	INFO_REALIGN_3_PRIME	chr7	TogoVar
CASZ1_chr1_10631604_10801646	10700078	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02809.hp1 others(1): Show HG02280.hp2 HG02630.hp1 HG02809.hp1 HG02897.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0003 a0004c0005 others(1): Show a0001c0001 a0001c0003 a0004c0005 a0010c0032	a0001c0001t0001 a0001c0003t0046 a0004c0005t0007 others(1): Show a0001c0001t0001 a0001c0003t0046 a0004c0005t0007 a0010c0032t0034	a0001c0001t0001g0142 a0001c0003t0046g0222 a0004c0005t0007g0110 others(1): Show a0001c0001t0001g0142 a0001c0003t0046g0222 a0004c0005t0007g0110 a0010c0032t0034g0145	4	221	0.0181	22	c.-24 others(39): Show c.-24+5413_-24+5414insGTGTGTGTGTGTGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp2 HG01258.hp2 others(9): Show HG00558.hp1 HG01099.hp2 HG01258.hp2 HG02004.hp1 HG02155.hp2 HG02622.hp2 HG03471.hp2 HG03516.hp1 HG04184.hp1 HG04204.hp1 NA18961.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0002t0007 a0001c0002t0025 a0001c0003t0002 a0001c0003t0006 a0001c0008t0011 a0001c0008t0019 a0004c0005t0013	a0001c0001t0001g0061 a0001c0001t0001g0093 a0001c0001t0004g0185 others(9): Show a0001c0001t0001g0061 a0001c0001t0001g0093 a0001c0001t0004g0185 a0001c0001t0018g0016 a0001c0002t0007g0060 a0001c0002t0025g0147 a0001c0003t0002g0098 a0001c0003t0002g0118 a0001c0003t0006g0201 a0001c0008t0011g0096 a0001c0008t0019g0017 a0004c0005t0013g0045	12	114	0.1053	22	c.-24 others(39): Show c.-24+5390_-24+5411dupGTGTGTGTGTGTGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10700111	A A	ACACACAC others(15): Show ACACACACACACACACACCCACC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	233	0.0043	22	c.-24 others(39): Show c.-24+5380_-24+5381insGGTGGGTGTGTGTGTGTGTGTG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10743417	A A	AGGAGAGC others(15): Show AGGAGAGCCCTGGGAGAGCCCTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01358.hp1 HG01358.hp2 others(2): Show HG00280.hp2 HG01358.hp1 HG01358.hp2 NA18945.hp2 NA19055.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0019 a0001c0001 a0001c0003 a0008c0019	a0001c0001t0001 a0001c0001t0008 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0004 a0008c0019t0003	a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0008g0029 others(2): Show a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0008g0029 a0001c0003t0004g0090 a0008c0019t0003g0022	5	231	0.0216	22	c.-77 others(41): Show c.-77+17262_-77+17283dupCAGGGCTCTCCCAGGGCTCTCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02148.hp2 HG02280.hp1 others(7): Show HG00609.hp2 HG02148.hp2 HG02280.hp1 HG02451.hp2 HG02717.hp1 HG02735.hp1 HG04204.hp2 NA18956.hp2 NA18982.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0072 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077	10	30	0.3333	22	c.118 others(36): Show c.118+82_118+103dupCTCTCTCTCTCTCTCTCTCTCT	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(15): Show CTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18960.hp2 NA18966.hp1 others(3): Show NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18985.hp1 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0167 a0002c0002t0002g0011 a0002c0002t0002g0167	6	211	0.0284	22	c.842 others(37): Show c.842+617_842+618insAAAAAAAAAAAAAAAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPER3_chr5_134962907_135016696	134979948	C C	CACCCTTC others(15): Show CACCCTTCCCTCCCTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(35): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01943.hp2 HG02109.hp1 HG02129.hp1 HG02293.hp1 HG02602.hp2 HG03491.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18942.hp1 NA18959.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA18986.hp1 NA19060.hp1 NA19079.hp1 NA19087.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0021 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0191 a0001c0002t0001g0061 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0098 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0003t0001g0006 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0110 a0001c0012t0001g0108	38	378	0.1005	22	c.252 others(39): Show c.252+9869_252+9890dupCTCCTTTCCTACCCTTCCCTCC	CATSPER3	ENSG00000152705.8	transcript	ENST00000282611.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPER4_chr1_26185602_26207964	26207807	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	396	0.0025	22	c.52 others(33): Show c.5265_*5266insAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4844		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0166	1	41	0.0244	22	c.128 others(41): Show c.1288-1565_1288-1544dupATATATATATATATATATATAT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	C C	CATATATA others(15): Show CATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	47	0.0213	22	c.-44 others(33): Show c.-4479_-4478insATATATATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741793	G G	GGGGGGGG others(15): Show GGGGGGGGGGGGGGTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0025 a0025	a0025c0022 a0025c0022	a0025c0022t0001 a0025c0022t0001	a0025c0022t0001g0033 a0025c0022t0001g0033	1	332	0.0030	22	c.573 others(39): Show c.573+2359_573+2360insGGGGGGGGTGGGGGGGTGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	46	0.0217	22	c.142 others(41): Show c.1428-1156_1428-1155insATATATATATATATATTTTTTT	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(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03209.hp1 HG02622.hp1 HG03209.hp1	a0005 a0017 a0005 a0017	a0005c0006 a0017c0018 a0005c0006 a0017c0018	a0005c0006t0001 a0017c0018t0001 a0005c0006t0001 a0017c0018t0001	a0005c0006t0001g0223 a0017c0018t0001g0308 a0005c0006t0001g0223 a0017c0018t0001g0308	2	47	0.0426	22	c.142 others(41): Show c.1428-1156_1428-1155insATATATATATATATTTTTTTTT	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(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0064 a0003c0004t0001g0064	1	46	0.0217	22	c.142 others(41): Show c.1428-1156_1428-1155insATATATATATATTTTTTTTTTT	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(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03654.hp1 HG02559.hp2 HG03654.hp1	a0005 a0029 a0005 a0029	a0005c0006 a0029c0039 a0005c0006 a0029c0039	a0005c0006t0001 a0029c0039t0001 a0005c0006t0001 a0029c0039t0001	a0005c0006t0001g0209 a0029c0039t0001g0058 a0005c0006t0001g0209 a0029c0039t0001g0058	2	47	0.0426	22	c.142 others(41): Show c.1428-1156_1428-1155insATATATATATTTTTTTTTTTTT	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(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	46	0.0217	22	c.142 others(41): Show c.1428-1156_1428-1155insATATATATTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	84	0.0119	22	c.150 others(39): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244528785	C C	CCACGCAC others(15): Show CCACGCACGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	96	0.0104	22	c.536 others(41): Show c.536+10090_536+10091insGCACGCGCACACACACACACAC	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553602	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0191 a0001c0002t0004g0191	1	24	0.0417	22	c.102 others(39): Show c.1029+810_1029+831dupCACACACACACACACACACACA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244553616	C C	CACACACA others(15): Show CACACACACACACATATATACAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02895.hp1 HG02615.hp2 HG02723.hp1 HG02895.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0003 a0001c0007t0001g0144 a0001c0007t0001g0146 a0001c0007t0001g0003 a0001c0007t0001g0144 a0001c0007t0001g0146	3	200	0.0150	22	c.102 others(39): Show c.1029+815_1029+816insTATATACATACACACACACACA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621315	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	9	0.1111	22	c.264 others(41): Show c.2648+3638_2648+3659dupATATATATATATATATATATAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344882	C C	CACACACA others(15): Show CACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0120 a0003c0004t0001g0120	1	346	0.0029	22	c.669 others(37): Show c.669+515_669+516insCACACACACACACACATATATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	119	0.0084	22	c.195 others(39): Show c.195+7707_195+7708insATATATATATATATATTTTTTT	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(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01943.hp2 HG01928.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0025 a0001c0001t0003g0023 a0001c0001t0002g0025 a0001c0001t0003g0023	2	120	0.0167	22	c.195 others(39): Show c.195+7707_195+7708insATATATATATATATTTTTTTTT	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(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	119	0.0084	22	c.195 others(39): Show c.195+7707_195+7708insATATATATATATTTTTTTTTTT	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(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	119	0.0084	22	c.195 others(39): Show c.195+7707_195+7708insATATATATTTTTTTTTTTTTTT	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(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0114 a0001c0001t0006g0042 a0001c0001t0006g0114	2	149	0.0134	22	c.196 others(41): Show c.196-12232_196-12231insAAAAAAAAAAAAAAAAAAAAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555518	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	282	0.0035	22	c.196 others(39): Show c.196-3425_196-3424insAAGAAAGAAAGAAAGAGAGAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555518	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	282	0.0035	22	c.196 others(39): Show c.196-3425_196-3424insAAGAAAGAAAGAGAGAGAGAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG01169.hp1 others(16): Show HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01978.hp2 HG02074.hp1 HG02647.hp1 HG02809.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 NA18946.hp2 NA18977.hp1 NA19030.hp1 NA19082.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 a0002c0002t0004g0004 a0002c0002t0004g0009 a0002c0002t0004g0021	19	86	0.2209	22	c.-85 others(31): Show c.-859_-858insACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42411192	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG03139.hp1 others(1): Show HG02280.hp1 HG02922.hp2 HG03139.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0024 a0001c0003t0006 a0001c0001t0024 a0001c0003t0006	a0001c0001t0024g0077 a0001c0003t0006g0096 a0001c0003t0006g0102 others(1): Show a0001c0001t0024g0077 a0001c0003t0006g0096 a0001c0003t0006g0102 a0001c0003t0006g0103	4	132	0.0303	22	c.472 others(39): Show c.472-5805_472-5804insTTTTTTTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG06807.hp2 HG00735.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0266 a0001c0001t0001g0230 a0001c0001t0001g0266	2	69	0.0290	22	c.510 others(39): Show c.510+1686_510+1707dupTTTTTTTTTTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88932173	T T	TGCTTCCC others(15): Show TGCTTCCCCCTCACACGGCCCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	262	0.0038	22	c.152 others(41): Show c.152-30539_152-30518dupGGGGGCCGTGTGAGGGGGAAGC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFB_chr16_67024149_67106058	67066393	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0036 a0001c0002t0006g0036	1	50	0.0200	22	c.283 others(37): Show c.283-272_283-271insAAAAAAAAAAAAAAAAAAAAAA	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLIF_chr11_59824273_59850499	59827460	G G	GACACACA others(15): Show GACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	24	0.0417	22	c.20 others(33): Show c.2023_*2024insGTGTGTGTGTGTGTGTGTGTGT	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding		1812		chr11	TogoVar
CBLL2_chrX_22267913_22279461	22271960	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	5	0.2000	22	c.-10 others(33): Show c.-1032_-1031insTTTTTTTTTTTTTTTTTTTTTT	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding		952		chrX	TogoVar
CBL_chr11_119201339_119313149	119244581	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03704.hp1 HG03704.hp2 others(1): Show HG03453.hp2 HG03704.hp1 HG03704.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0015 a0001c0001t0001 a0001c0004t0015	a0001c0001t0001g0169 a0001c0001t0001g0191 a0001c0004t0015g0016 others(1): Show a0001c0001t0001g0169 a0001c0001t0001g0191 a0001c0004t0015g0016 a0001c0004t0015g0019	4	203	0.0197	22	c.443 others(41): Show c.443+11904_443+11905insTTTTTTTTTTTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119277237	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0245 a0001c0001t0045g0245	1	358	0.0028	22	c.100 others(39): Show c.1008-519_1008-518insACACACACACACACACACACAC	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR3_chr21_36130079_36151562	36142431	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAACAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0264 a0003c0003t0003g0264	1	246	0.0041	22	c.398 others(39): Show c.398-3632_398-3631insCAAAAAAAAAAAAAAAAAAAAA	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36146917	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG01070.hp1 others(31): Show HG00323.hp2 HG00609.hp1 HG01070.hp1 HG01884.hp1 HG01884.hp2 HG02015.hp1 HG02040.hp1 HG02080.hp2 HG02145.hp2 HG02280.hp1 HG02602.hp1 HG02622.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03704.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18962.hp2 NA18977.hp1 NA18979.hp2 NA18986.hp2 NA19004.hp2 NA19007.hp2 NA19057.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0004c0006 a0004c0007 others(1): Show a0002c0002 a0004c0006 a0004c0007 a0006c0012	a0002c0002t0001 a0004c0006t0001 a0004c0007t0001 others(1): Show a0002c0002t0001 a0004c0006t0001 a0004c0007t0001 a0006c0012t0001	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 others(26): Show a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0070 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0091 a0002c0002t0001g0102 a0002c0002t0001g0106 a0002c0002t0001g0111 a0002c0002t0001g0121 a0002c0002t0001g0135 a0002c0002t0001g0142 a0002c0002t0001g0149 a0002c0002t0001g0151 a0004c0006t0001g0011 a0004c0006t0001g0131 a0004c0006t0001g0139 a0004c0007t0001g0032 a0006c0012t0001g0140	34	151	0.2252	22	c.40 others(31): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		356		chr21	TogoVar
CBR3_chr21_36130079_36151562	36146919	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	98	0.0102	22	c.40 others(31): Show c.407_*408insTTTTTTTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		358		chr21	TogoVar
CBX1_chr17_48065059_48106478	48080951	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	241	0.0041	22	c.-37 others(39): Show c.-37-3911_-37-3910insATATATATATATTTTTTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48105324	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	49	0.0204	22	c.-41 others(33): Show c.-4116_-4095dupAAAAAAAAAAAAAAAAAAAAAA	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding		3847		chr17	TogoVar
CBX8_chr17_79787132_79802077	79796861	G G	GGGGGAGG others(15): Show GGGGGAGGGAACCCGGGCCGGGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01934.hp2 HG01515.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	2	407	0.0049	22	c.69+ others(33): Show c.69+47_69+68dupTCCCGGCCCGGGTTCCCTCCCC	CBX8	ENSG00000141570.11	transcript	ENST00000269385.9	protein_coding	1/4			chr17	TogoVar
CBY3_chr5_179673560_179686034	179676225	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	90	0.0111	22	c.23 others(33): Show c.2357_*2358insGTGTGTGTGTGTGTGTGTGTGT	CBY3	ENSG00000204659.5	transcript	ENST00000376974.5	protein_coding		2334		chr5	TogoVar
CC2D1A_chr19_13901201_13935879	13926030	A A	ATATATAT others(15): Show ATATATATATACATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02818.hp2 others(9): Show HG01109.hp2 HG02145.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03195.hp2 HG03486.hp2 HG03540.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0239 a0001c0001t0001g0240 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0006t0001g0032 a0001c0006t0001g0127	12	349	0.0344	22	c.194 others(39): Show c.1941-477_1941-476insCATATATGTGTGTATATATATA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D2B_chr10_95902975_96038745	95926836	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00280.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0029 a0001c0001t0003g0030	2	310	0.0065	22	c.241 others(37): Show c.241-390_241-389insGTGTGTGTGTCTGTGTGTGTGT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95926840	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01123.hp2 others(7): Show HG00735.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01346.hp1 HG02257.hp2 HG04115.hp1 NA19060.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0027 a0002c0002 others(3): Show a0001c0001 a0001c0027 a0002c0002 a0002c0014 a0004c0004 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0027t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0027t0001 a0002c0002t0001 a0002c0014t0001 a0004c0004t0001 a0007c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0034 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0003g0050 a0001c0027t0001g0035 a0002c0002t0001g0033 a0002c0014t0001g0036 a0004c0004t0001g0043 a0007c0009t0001g0032	10	279	0.0358	22	c.241 others(37): Show c.241-390_241-389insGTGTGTGTGTGTGTCTGTGTGT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34		INFO_REALIGN_3_PRIME	chr10	TogoVar

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