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
BTAF1_chr10_91918770_92036437	91991785	GTGTGTGT others(27): Show GTGTGTGTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	328	0.0030	-34	c.285 others(51): Show c.2855-332_2855-299delGTGTGTGTGTGTATATATATATATATAT ATATAT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032852	TGAAAGAT others(27): Show TGAAAGATTAGACATTTGAAAACCAATAAATGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0308	1	328	0.0030	-34	c.39 others(45): Show c.3920_*3953delGAAAGATTAGACATTTGAAAACCAATAAATGAGA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		1416		chr10	TogoVar
BTBD19_chr1_44803523_44820585	44810038	TGGAGCTG others(27): Show TGGAGCTGGGACTAGAACTCAGGGCTTTGGGTCCC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0039 a0001c0001t0067g0039	1	434	0.0023	-34	c.87- others(47): Show c.87-174_87-141delGGAGCTGGGACTAGAACTCAGGGCTTTGGGTC CC	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	1/7			chr1	TogoVar
BTBD7_chr14_93232550_93338036	93300704	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03471.hp2 NA20129.hp2 HG02572.hp2 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0272 a0001c0001t0018g0273 a0001c0001t0018g0274 a0001c0001t0018g0272 a0001c0001t0018g0273 a0001c0001t0018g0274	3	183	0.0164	-34	c.-10 others(53): Show c.-106-4581_-106-4548delCACACACACACACACACACACACACA CACACACA	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93300740	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0055 a0003c0003t0055	a0003c0003t0055g0131 a0003c0003t0055g0131	1	373	0.0027	-34	c.-10 others(53): Show c.-106-4617_-106-4584delTACACACACACACACACACACACACA CACACACA	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD9_chr6_38163451_38644929	38171855	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0179 a0001c0001t0034g0179	1	211	0.0047	-34	c.30 others(45): Show c.3096_*3129delATTATTATTTTTTTTTTTTTTTTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	11/11	3096		chr6	TogoVar
BTBD9_chr6_38163451_38644929	38171861	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAATAATAATAATAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0133 a0001c0001t0064g0133	1	219	0.0046	-34	c.30 others(45): Show c.3090_*3123delATTATTATTATTATTTTTTTTTTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	11/11	3090		chr6	TogoVar
BTBD9_chr6_38163451_38644929	38465727	ATATATAT others(27): Show ATATATATATATATATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp1 others(44): Show HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00735.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp2 NA18612.hp1 NA18612.hp2 NA18957.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18983.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp1 NA19088.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0063 a0001c0001t0070 a0001c0001t0078 a0001c0001t0079 a0001c0001t0084 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0001t0099 a0001c0001t0116 a0001c0001t0138	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(44): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0002g0058 a0001c0001t0003g0055 a0001c0001t0007g0051 a0001c0001t0007g0054 a0001c0001t0009g0056 a0001c0001t0009g0060 a0001c0001t0009g0143 a0001c0001t0011g0025 a0001c0001t0011g0168 a0001c0001t0011g0169 a0001c0001t0012g0018 a0001c0001t0013g0082 a0001c0001t0013g0139 a0001c0001t0013g0154 a0001c0001t0014g0019 a0001c0001t0014g0065 a0001c0001t0016g0016 a0001c0001t0019g0061 a0001c0001t0020g0068 a0001c0001t0022g0001 a0001c0001t0026g0039 a0001c0001t0037g0040 a0001c0001t0040g0120 a0001c0001t0041g0121 a0001c0001t0044g0003 a0001c0001t0063g0184 a0001c0001t0070g0141 a0001c0001t0078g0079 a0001c0001t0079g0105 a0001c0001t0084g0007 a0001c0001t0088g0057 a0001c0001t0090g0144 a0001c0001t0091g0059 a0001c0001t0099g0185 a0001c0001t0116g0009 a0001c0001t0138g0170	47	222	0.2117	-34	c.115 others(57): Show c.1154+111839_1154+111872delCATACATATATATATATATATA TATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTG3_chr21_17588653_17617901	17613296	GCACTTGA others(27): Show GCACTTGACACCCTCAGGGCGGAATGGCGAGTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	-34	c.-64 others(43): Show c.-640_-607delAGAACTCGCCATTCCGCCCTGAGGGTGTCAAGTG	BTG3	ENSG00000154640.15	transcript	ENST00000348354.7	protein_coding		396		chr21	TogoVar
BTLA_chr3_112458966_112504472	112502174	CTCTTAGA others(27): Show CTCTTAGATGGGGGGAATGCAATAGGCAGAGTACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	-34	c.-28 others(45): Show c.-2850_-2817delTGTACTCTGCCTATTGCATTCCCCCCATCTAAGA	BTLA	ENSG00000186265.10	transcript	ENST00000334529.10	protein_coding		2703		chr3	TogoVar
C10orf67_chr10_23197696_23349797	23323894	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00609.hp1 others(59): Show HG00544.hp2 HG00597.hp2 HG00609.hp1 HG01123.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02523.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19057.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0008 a0007c0009 a0001c0001 a0001c0008 a0007c0009	a0001c0001t0001 a0001c0001t0013 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0008t0001 a0007c0009t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(59): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0013g0285 a0001c0008t0001g0154 a0007c0009t0001g0260	62	182	0.3407	-34	c.328 others(51): Show c.328-1391_328-1358delATATATATATATATATATATATATATAT ATATAT	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C10orf71_chr10_49294170_49332492	49319682	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03471.hp2 HG02970.hp2 HG03471.hp2	a0015 a0015	a0015c0044 a0015c0045 a0015c0044 a0015c0045	a0015c0044t0009 a0015c0045t0001 a0015c0044t0009 a0015c0045t0001	a0015c0044t0009g0155 a0015c0045t0001g0156 a0015c0044t0009g0155 a0015c0045t0001g0156	2	34	0.0588	-34	c.-14 others(53): Show c.-144-2701_-144-2668delTATATATATATATATATATATATATA TATATATA	C10orf71	ENSG00000177354.12	transcript	ENST00000374144.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
C12orf40_chr12_39621183_39726914	39711834	TGTGTGTA others(27): Show TGTGTGTATACACATGCATGTGTATGTGTATACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG06807.hp1 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	358	0.0056	-34	c.141 others(53): Show c.1412-4919_1412-4886delGTGTATACACATGCATGTGTATGTGT ATACACGT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39713277	CACATACG others(27): Show CACATACGTGTATATATGTGTACACACACATACGT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	353	0.0028	-34	c.141 others(53): Show c.1412-3478_1412-3445delACATACGTGTATATATGTGTACACAC ACATACGT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12			chr12	TogoVar
C12orf40_chr12_39621183_39726914	39713673	GTATGTAT others(27): Show GTATGTATGCCTGTATACATGCGTATATACATATT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02451.hp2 others(5): Show HG01192.hp2 HG02109.hp1 HG02451.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0029 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036	8	358	0.0223	-34	c.141 others(53): Show c.1412-3049_1412-3016delTTATGTATGCCTGTATACATGCGTAT ATACATAT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C13orf46_chr13_113948705_113979076	113952316	TCCGCCTG others(27): Show TCCGCCTGCCCAGGGCCGCTGTGTGGCCGCCGCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG00741.hp2 others(12): Show HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01256.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01952.hp2 HG02300.hp1 HG03041.hp1 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0043 others(4): Show a0001c0001t0011 a0001c0001t0018 a0001c0001t0043 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0061	a0001c0001t0011g0018 a0001c0001t0011g0026 a0001c0001t0011g0076 others(9): Show a0001c0001t0011g0018 a0001c0001t0011g0026 a0001c0001t0011g0076 a0001c0001t0011g0078 a0001c0001t0018g0070 a0001c0001t0018g0072 a0001c0001t0018g0074 a0001c0001t0043g0224 a0001c0001t0050g0073 a0001c0001t0051g0077 a0001c0001t0052g0075 a0001c0001t0061g0109	15	412	0.0364	-34	c.44 others(45): Show c.4423_*4456delGAGCGGCGGCCACACAGCGGCCCTGGGCAGGCGG	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		1388		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113952343	CGCCGCTC others(27): Show CGCCGCTCCCGCCTGCCCAGGGCCGCTGTGTGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02451.hp1 HG00099.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0075 a0001c0001t0006 a0001c0001t0075	a0001c0001t0006g0044 a0001c0001t0075g0235 a0001c0001t0006g0044 a0001c0001t0075g0235	2	410	0.0049	-34	c.43 others(45): Show c.4396_*4429delAGCCACACAGCGGCCCTGGGCAGGCGGGAGCGGC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		1361		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113959011	CTCATGCT others(27): Show CTCATGCTTGTAATCCCAGCACTTGGGAGGTTGAG	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	412	0.0024	-34	c.573 others(51): Show c.573-2206_573-2173delCTCAACCTCCCAAGTGCTGGGATTACAA GCATGA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C14orf132_chr14_96034362_96098971	96049606	ATATACAT others(27): Show ATATACATATATACGTATATATATACATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG02895.hp2 others(6): Show HG01109.hp2 HG02647.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 others(4): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0038	a0001c0001t0004g0052 a0001c0001t0008g0054 a0001c0001t0016g0023 others(4): Show a0001c0001t0004g0052 a0001c0001t0008g0054 a0001c0001t0016g0023 a0001c0001t0020g0143 a0001c0001t0021g0014 a0001c0001t0028g0023 a0001c0001t0038g0055	9	370	0.0243	-34	c.27+ others(51): Show c.27+10084_27+10117delCATATATACGTATATATATACATATATA CGTATA	C14orf132	ENSG00000227051.7	transcript	ENST00000555004.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
C17orf58_chr17_67986099_68001469	68000846	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02895.hp1 others(6): Show HG01891.hp1 HG02615.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG06807.hp1 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0043 a0003c0003t0001g0114 others(2): Show a0003c0003t0001g0022 a0003c0003t0001g0043 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116	9	126	0.0714	-34	c.-46 others(45): Show c.-4682_-4649delTATATATATATATATATATATATATATATATATA	C17orf58	ENSG00000186665.10	transcript	ENST00000580729.3	protein_coding		4378		chr17	TogoVar
C19orf38_chr19_10843415_10874790	10859332	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	382	0.0026	-34	c.462 others(49): Show c.462-581_462-548delGTGTGTGTGTGTGTGTATATATATATATAT ATAT	C19orf38	ENSG00000214212.9	transcript	ENST00000397820.5	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
C19orf85_chr19_55458001_55469751	55467232	CCCGGCCG others(27): Show CCCGGCCGTACATTTCATGGCCTTTTATATGTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	-34	c.-27 others(45): Show c.-2712_-2679delAAAACATATAAAAGGCCATGAAATGTACGGCCGG	C19orf85	ENSG00000283567.2	transcript	ENST00000635964.2	protein_coding		2482		chr19	TogoVar
C1QTNF1_chr17_79019169_79054788	79030459	TTTTCTTT others(27): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19010.hp2 NA18982.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0059 a0001c0001t0001g0062	2	366	0.0055	-34	c.-15 others(51): Show c.-15+5993_-15+6026delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	C1QTNF1	ENSG00000173918.15	transcript	ENST00000579760.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
C1orf162_chr1_111468984_111483512	111482781	CTGCTCAG others(27): Show CTGCTCAGACCAGAAGGCCACTTGAGTATCCTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	474	0.0021	-34	c.46 others(45): Show c.4659_*4692delTGCTCAGACCAGAAGGCCACTTGAGTATCCTGAG	C1orf162	ENSG00000143110.12	transcript	ENST00000369718.4	protein_coding		4270		chr1	TogoVar
C1orf198_chr1_230832119_230873521	230867944	TAGATGGA others(27): Show TAGATGGAGGTTCTTTAACGACCCACCTCTCGGCG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02257.hp1 HG02451.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0064 a0002c0004t0008g0065 a0002c0004t0008g0064 a0002c0004t0008g0065	2	426	0.0047	-34	c.333 others(49): Show c.333+202_333+235delCGCCGAGAGGTGGGTCGTTAAAGAACCTCC ATCT	C1orf198	ENSG00000119280.17	transcript	ENST00000366663.10	protein_coding	1/3			chr1	TogoVar
C1orf21_chr1_184382029_184634019	184511779	CAAACCCG others(27): Show CAAACCCGTTCTTGTTCACATGGTGGCAGGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0164 a0001c0001t0064g0164	1	230	0.0043	-34	c.189 others(51): Show c.189+4098_189+4131delAAACCCGTTCTTGTTCACATGGTGGCAG GAGAGA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5			chr1	TogoVar
C1orf87_chr1_59985394_60078770	60064768	ATATTTAA others(27): Show ATATTTAATATATAAATATATATTAAATATATAAT	A A	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0071 a0002c0002t0003g0071	1	380	0.0026	-34	c.107 others(51): Show c.107+7735_107+7768delATTATATATTTAATATATATTTATATAT TAAATA	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar
C22orf23_chr22_37938050_37958601	37943348	AACTCCCA others(27): Show AACTCCCAGGCCAGGGCTCTAGGTCGCTCCCACCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0046 a0002c0003t0012g0046	1	372	0.0027	-34	c.79 others(43): Show c.793_*826delAGGTGGGAGCGACCTAGAGCCCTGGCCTGGGAGT	C22orf23	ENSG00000128346.11	transcript	ENST00000403305.6	protein_coding	7/7	793		chr22	TogoVar
C2CD3_chr11_74007718_74176002	74077813	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03139.hp2 HG04184.hp2 others(2): Show HG02015.hp2 HG03139.hp2 HG04184.hp2 NA18989.hp2 NA19068.hp2	a0003 a0021 a0027 a0003 a0021 a0027	a0003c0002 a0021c0037 a0027c0036 a0003c0002 a0021c0037 a0027c0036	a0003c0002t0001 a0021c0037t0001 a0027c0036t0001 a0003c0002t0001 a0021c0037t0001 a0027c0036t0001	a0003c0002t0001g0270 a0003c0002t0001g0276 a0003c0002t0001g0296 others(2): Show a0003c0002t0001g0270 a0003c0002t0001g0276 a0003c0002t0001g0296 a0021c0037t0001g0273 a0027c0036t0001g0287	5	316	0.0158	-34	c.460 others(51): Show c.4603+268_4603+301delAATATATATATATATATATATATATATA TATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74111919	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02280.hp1 HG02451.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0194 a0007c0017t0001g0195 a0007c0017t0001g0194 a0007c0017t0001g0195	2	118	0.0169	-34	c.184 others(53): Show c.1843+1827_1843+1860delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	11/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	404863	TGAGGGGG others(27): Show TGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0174 a0001c0001t0119g0174	1	235	0.0043	-34	c.21 others(45): Show c.2199_*2232delCACACCCCTCGGGACAGGACCCCGTCCCCCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		581		chr19	TogoVar
C2CD6_chr2_201482421_201624178	201515202	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	142	0.0070	-34	c.150 others(55): Show c.1507-19267_1507-19234delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	13/15			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	GTGTATAC others(27): Show GTGTATACATATCTGTATACATATGTATACATATC	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA18977.hp2 HG03490.hp2 HG03492.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0002g0150 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0002g0150	3	284	0.0106	-34	c.366 others(51): Show c.366+3804_366+3837delGATATGTATACATATGTATACAGATATG TATACA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208194329	CACCCAAC others(27): Show CACCCAACTCATAAAGGCGTTTGTTGGCACAGATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	340	0.0029	-34	c.-44 others(45): Show c.-4486_-4453delTATCTGTGCCAACAAACGCCTTTATGAGTTGGGT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding		4300		chr2	TogoVar
C3_chr19_6672704_6725650	6700396	TATGTAAT others(27): Show TATGTAATATGATATATTATATATGTAATATATGA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02886.hp2 others(10): Show HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03540.hp1 HG06807.hp1 NA19043.hp1 NA21309.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0006 a0001c0010 a0001c0012 others(3): Show a0001c0006 a0001c0010 a0001c0012 a0001c0052 a0003c0038 a0014c0058	a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 others(3): Show a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 a0001c0052t0001 a0003c0038t0001 a0014c0058t0002	a0001c0006t0001g0151 a0001c0010t0001g0067 a0001c0010t0001g0068 others(10): Show a0001c0006t0001g0151 a0001c0010t0001g0067 a0001c0010t0001g0068 a0001c0010t0001g0069 a0001c0010t0001g0217 a0001c0010t0001g0339 a0001c0010t0001g0340 a0001c0010t0001g0344 a0001c0012t0001g0219 a0001c0012t0001g0336 a0001c0052t0001g0283 a0003c0038t0001g0056 a0014c0058t0002g0066	13	363	0.0358	-34	c.244 others(53): Show c.2440+1697_2440+1730delTCATATATTACATATATAATATATCA TATTACAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3orf70_chr3_185071838_185158060	185091931	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03209.hp2 HG03195.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0081 a0001c0001t0080 a0001c0001t0081	a0001c0001t0080g0156 a0001c0001t0081g0155 a0001c0001t0080g0156 a0001c0001t0081g0155	2	376	0.0053	-34	c.197 others(51): Show c.197-8402_197-8369delAATATATATATATATATATATATATATA TATATA	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C4orf50_chr4_5954375_6023431	6010301	CTGAAGTT others(27): Show CTGAAGTTCAGTATAAAGGGGAAAAAAATTCCACT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0092 a0092	a0092c0096 a0092c0096	a0092c0096t0001 a0092c0096t0001	a0092c0096t0001g0151 a0092c0096t0001g0151	1	344	0.0029	-34	c.426 others(51): Show c.426+1495_426+1528delAGTGGAATTTTTTTCCCCTTTATACTGA ACTTCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	2/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6014706	CTCATCTG others(27): Show CTCATCTGTCAAAGGAGATGATGTCACCCCATGCA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0211	1	344	0.0029	-34	c.288 others(51): Show c.288-2772_288-2739delTGCATGGGGTGACATCATCTCCTTTGAC AGATGA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	1/11			chr4	TogoVar
C6orf120_chr6_169697126_169711360	169698245	GCCTACCT others(27): Show GCCTACCTCTGCCTCAGTGTATTCGGCTTCAATGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	414	0.0024	-34	c.-42 others(45): Show c.-4214_-4181delCCTACCTCTGCCTCAGTGTATTCGGCTTCAATGC	C6orf120	ENSG00000185127.7	transcript	ENST00000332290.4	protein_coding		3880		chr6	TogoVar
C6orf163_chr6_87339813_87370463	87367925	GACTTTTA others(27): Show GACTTTTATGTTACCAAGAAGTCACTCTGATGGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0050 a0002c0003t0001g0050	1	434	0.0023	-34	c.25 others(45): Show c.2530_*2563delACTTTTATGTTACCAAGAAGTCACTCTGATGGTT	C6orf163	ENSG00000203872.7	transcript	ENST00000388923.5	protein_coding		2463		chr6	TogoVar
C7_chr5_40904497_40989643	40968582	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG02155.hp2 others(5): Show HG00408.hp2 HG00673.hp1 HG02155.hp2 NA18944.hp2 NA18951.hp1 NA19055.hp1 NA19066.hp1 NA19066.hp2	a0003 a0015 a0003 a0015	a0003c0003 a0015c0015 a0003c0003 a0015c0015	a0003c0003t0003 a0015c0015t0003 a0003c0003t0003 a0015c0015t0003	a0003c0003t0003g0235 a0003c0003t0003g0262 a0003c0003t0003g0338 others(5): Show a0003c0003t0003g0235 a0003c0003t0003g0262 a0003c0003t0003g0338 a0003c0003t0003g0339 a0003c0003t0003g0341 a0003c0003t0003g0357 a0003c0003t0003g0358 a0015c0015t0003g0308	8	378	0.0212	-34	c.188 others(53): Show c.1882+3711_1882+3744delATATATATATATATATATTTTTTTTT TTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1001827	CCCTGTGG others(27): Show CCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0130 a0001c0001t0009g0130	1	324	0.0031	-34	c.324 others(51): Show c.324-1310_324-1277delACTCCACTCACCCACAGGACTCCCCACC CACAGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1002188	TGGGTGGG others(27): Show TGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	322	0.0031	-34	c.324 others(51): Show c.324-1671_324-1638delGCAGGACTCCACTCACCCACAGGACTCC CCACCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1003636	GGAGTCCT others(27): Show GGAGTCCTGCGGGTGGGGAGTCCTGTGGGTGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG03516.hp2 others(1): Show HG02109.hp2 HG02970.hp2 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0156 a0001c0001t0014g0172 a0001c0001t0014g0173 others(1): Show a0001c0001t0014g0156 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174	4	324	0.0123	-34	c.324 others(51): Show c.324-3119_324-3086delTACTCACCCACAGGACTCCCCACCCGCA GGACTC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
CA10_chr17_51625320_52163714	51849205	GTATATAT others(27): Show GTATATATATATATACATATATGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02559.hp1 others(1): Show HG01884.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0082 a0001c0001t0003g0122 a0001c0001t0003g0137 others(1): Show a0001c0001t0001g0082 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0004g0071	4	127	0.0315	-34	c.279 others(53): Show c.279+81751_279+81784delTATATACACACACATATATGTATATA TATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG03579.hp2 HG01891.hp1 HG02615.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0086 a0001c0001t0005g0001 a0001c0001t0006g0002 a0001c0001t0001g0086 a0001c0001t0005g0001 a0001c0001t0006g0002	3	28	0.1071	-34	c.279 others(53): Show c.279+52127_279+52160delATATATATATATATATATATATATAT ATATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CAB39L_chr13_49303650_49449064	49318496	GGGAAAGG others(27): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	132	0.0076	-34	c.835 others(51): Show c.835-7537_835-7504delTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49326854	ATAATACT others(27): Show ATAATACTGCATTTTTGAACAAAATTATATGAAGT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0244 a0002c0003t0002g0244	1	322	0.0031	-34	c.834 others(51): Show c.834+5059_834+5092delACTTCATATAATTTTGTTCAAAAATGCA GTATTA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CABCOCO1_chr10_61657929_61771766	61717426	AACATCTT others(27): Show AACATCTTTAACTGCCAGGAAAAGAAAAGCCTAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	372	0.0027	-34	c.552 others(53): Show c.552+26807_552+26840delCATCTTTAACTGCCAGGAAAAGAAAA GCCTAATA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011095	ACACACAC others(27): Show ACACACACACACACACACACACACACACGCACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0118 a0003c0005t0001g0118	1	265	0.0038	-34	c.-34 others(43): Show c.-346_-313delCACACACACACACACACACACACACACGCACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		208		chr22	TogoVar

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