Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CDC42_chr1_22047709_22106360	22054921	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp2 others(17): Show HG00099.hp2 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG01243.hp2 HG02280.hp1 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG03195.hp2 HG03710.hp2 NA18972.hp1 NA18983.hp2 NA18985.hp1 NA19004.hp1 NA19043.hp1 NA19056.hp1 NA19070.hp2 NA19079.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0031 a0001c0001t0038 a0001c0001t0046 a0001c0001t0085	a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0047 others(15): Show a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0047 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0006g0005 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0046 a0001c0001t0006g0059 a0001c0001t0006g0064 a0001c0001t0011g0014 a0001c0001t0011g0021 a0001c0001t0031g0018 a0001c0001t0031g0049 a0001c0001t0038g0082 a0001c0001t0046g0030 a0001c0001t0085g0048	20	290	0.0690	-29	c.-51 others(46): Show c.-51+2201_-51+2229delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH13_chr16_82621969_83805640	83443716	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0037 a0001c0001t0034g0037	1	105	0.0095	-29	c.782 others(48): Show c.782-42759_782-42731delAAAAAAAAAAAAAAAAAAATATATAT ATA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83443718	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG03098.hp2 HG02258.hp2 HG02717.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0033 a0001c0002t0006 a0001c0001t0002 a0001c0001t0033 a0001c0002t0006	a0001c0001t0002g0044 a0001c0001t0033g0051 a0001c0002t0006g0103 a0001c0001t0002g0044 a0001c0001t0033g0051 a0001c0002t0006g0103	3	108	0.0278	-29	c.782 others(48): Show c.782-42757_782-42729delAAAAAAAAAAAAAAAAATATATATAT ATA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89186182	TTACCCAG others(22): Show TTACCCAGCGCACAGTAGGTGCTCTGTGAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18969.hp2 NA19068.hp1 others(1): Show HG01175.hp2 NA18969.hp2 NA19068.hp1 NA19084.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0003 a0002c0004 a0003c0003	a0002c0004t0004 a0003c0003t0001 a0002c0004t0004 a0003c0003t0001	a0002c0004t0004g0115 a0002c0004t0004g0116 a0002c0004t0004g0118 others(1): Show a0002c0004t0004g0115 a0002c0004t0004g0116 a0002c0004t0004g0118 a0003c0003t0001g0210	4	404	0.0099	-29	c.663 others(44): Show c.663+850_663+878delTACCCAGCGCACAGTAGGTGCTCTGTGAA	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	5/13			chr16	TogoVar
CDH20_chr18_61328430_61560779	61500102	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02109.hp1 HG02258.hp2 others(2): Show HG00099.hp1 HG02109.hp1 HG02258.hp2 HG02723.hp2 HG02886.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0022 a0001c0001 a0006c0022	a0001c0001t0001 a0001c0001t0016 a0006c0022t0016 a0001c0001t0001 a0001c0001t0016 a0006c0022t0016	a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0016g0120 a0006c0022t0016g0170	5	8	0.6250	-29	c.542 others(44): Show c.542-262_542-234delAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH22_chr20_46168739_46313498	46226257	TTCTTCTT others(22): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG02622.hp1 others(5): Show HG01243.hp1 HG02572.hp2 HG02622.hp1 HG03139.hp1 HG03209.hp1 HG06807.hp1 HG06807.hp2 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0001t0001g0208 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0001t0001g0208 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0002g0211 a0001c0001t0002g0285 a0002c0003t0001g0146	8	315	0.0254	-29	c.670 others(46): Show c.670+1222_670+1250delGAAGAAGAAGAAGAAGAAGAAGAAGAAG A	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	4/11			chr20	TogoVar
CDH22_chr20_46168739_46313498	46226260	TTCTTCTT others(22): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	316	0.0032	-29	c.670 others(46): Show c.670+1219_670+1247delGAAGAAGAAGAAGAAGAAGAAGAAGAAG A	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	4/11			chr20	TogoVar
CDH4_chr20_61247261_61945617	61522704	TGCGGGCT others(22): Show TGCGGGCTGTTGTCTTCCGCGGAAATGGCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG02257.hp2 others(1): Show HG01433.hp1 HG01433.hp2 HG02257.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0011 a0002c0002 others(1): Show a0001c0003 a0001c0011 a0002c0002 a0002c0004	a0001c0003t0035 a0001c0011t0005 a0002c0002t0022 others(1): Show a0001c0003t0035 a0001c0011t0005 a0002c0002t0022 a0002c0004t0001	a0001c0003t0035g0043 a0001c0011t0005g0101 a0002c0002t0022g0105 others(1): Show a0001c0003t0035g0043 a0001c0011t0005g0101 a0002c0002t0022g0105 a0002c0004t0001g0094	4	106	0.0377	-29	c.170 others(50): Show c.170-220834_170-220806delTGGCCGCGGGCTGTTGTCTTCCGC GGAAA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65842822	TGTATTAT others(22): Show TGTATTATATTTTTCAGTATTCCTGTAAAG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp1 HG01258.hp1 others(16): Show HG00735.hp1 HG01257.hp1 HG01258.hp1 HG01952.hp2 HG02145.hp2 HG02258.hp2 HG02735.hp2 HG02809.hp2 HG02965.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18966.hp1 NA19030.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0002t0003 a0002c0002t0010 others(7): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0010 a0002c0002t0036 a0002c0002t0042 a0002c0002t0044 a0002c0002t0074 a0002c0002t0075 a0002c0002t0097 a0002c0010t0003	a0002c0002t0001g0186 a0002c0002t0003g0014 a0002c0002t0003g0038 others(16): Show a0002c0002t0001g0186 a0002c0002t0003g0014 a0002c0002t0003g0038 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0003g0087 a0002c0002t0003g0092 a0002c0002t0010g0032 a0002c0002t0010g0033 a0002c0002t0010g0035 a0002c0002t0010g0043 a0002c0002t0036g0020 a0002c0002t0042g0021 a0002c0002t0044g0034 a0002c0002t0074g0114 a0002c0002t0075g0108 a0002c0002t0097g0064 a0002c0010t0003g0055	19	206	0.0922	-29	c.982 others(44): Show c.982-989_982-961delGTATTATATTTTTCAGTATTCCTGTAAAG	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	6/11			chr18	TogoVar
CDH7_chr18_65746012_65895337	65849350	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02895.hp2 HG02897.hp1 others(2): Show HG00735.hp1 HG02895.hp2 HG02897.hp1 HG03688.hp1 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0020 a0001c0001t0049 a0002c0002t0003 others(1): Show a0001c0001t0020 a0001c0001t0049 a0002c0002t0003 a0002c0004t0024	a0001c0001t0020g0142 a0001c0001t0049g0025 a0002c0002t0003g0045 others(2): Show a0001c0001t0020g0142 a0001c0001t0049g0025 a0002c0002t0003g0045 a0002c0004t0024g0011 a0002c0004t0024g0012	5	104	0.0481	-29	c.123 others(48): Show c.1235+5289_1235+5317delCTTTTCTTTTCTTTTCTTTTCTTTTC TTT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDHR1_chr10_84189537_84223694	84190114	TCACCTCA others(22): Show TCACCTCAGCCTCCCAAGTAGCTGGGACTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01433.hp2 others(12): Show HG00639.hp1 HG01099.hp2 HG01433.hp2 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02965.hp2 HG03209.hp1 HG06807.hp2 NA18995.hp2 NA19030.hp2 NA19089.hp2	a0001 a0008 a0014 a0001 a0008 a0014	a0001c0002 a0001c0003 a0008c0011 others(1): Show a0001c0002 a0001c0003 a0008c0011 a0014c0018	a0001c0002t0003 a0001c0002t0005 a0001c0002t0023 others(7): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0023 a0001c0002t0024 a0001c0002t0049 a0001c0003t0017 a0001c0003t0020 a0001c0003t0033 a0008c0011t0002 a0014c0018t0048	a0001c0002t0003g0036 a0001c0002t0003g0163 a0001c0002t0005g0011 others(9): Show a0001c0002t0003g0036 a0001c0002t0003g0163 a0001c0002t0005g0011 a0001c0002t0023g0161 a0001c0002t0024g0120 a0001c0002t0049g0158 a0001c0003t0017g0050 a0001c0003t0020g0159 a0001c0003t0020g0160 a0001c0003t0033g0162 a0008c0011t0002g0165 a0014c0018t0048g0164	15	386	0.0389	-29	c.-46 others(40): Show c.-4646_-4618delCACCTCAGCCTCCCAAGTAGCTGGGACTA	CDHR1	ENSG00000148600.15	transcript	ENST00000623527.4	protein_coding		4422		chr10	TogoVar
CDK12_chr17_39456486_39539544	39516467	CCACCTTA others(22): Show CCACCTTACCCTCCTGAGTAGCTTGGACTA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	258	0.0039	-29	c.284 others(46): Show c.2846+665_2846+693delTACCCTCCTGAGTAGCTTGGACTACACC T	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK15_chr2_201801537_201900550	201875346	GTACAGCT others(22): Show GTACAGCTCTTCTAGCTGATAGTATGAATC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG01243.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0012 a0001c0001t0030g0132 a0001c0001t0030g0012 a0001c0001t0030g0132	2	320	0.0063	-29	c.105 others(48): Show c.1058+3050_1058+3078delTACAGCTCTTCTAGCTGATAGTATGA ATC	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK19_chr6_110604978_110820469	110647499	TCCAGTAG others(22): Show TCCAGTAGAGGACAGAAAAATCTAAAAATC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19085.hp2 NA19063.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0140 a0001c0001t0006g0230 a0001c0001t0006g0140 a0001c0001t0006g0230	2	298	0.0067	-29	c.457 others(46): Show c.457-8822_457-8794delGATTTTTAGATTTTTCTGTCCTCTACTG G	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110780444	AATCTTCT others(22): Show AATCTTCTATCAAGGTATATATCAGAAGAC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0138 a0001c0001t0026g0138	1	298	0.0034	-29	c.129 others(48): Show c.129-34272_129-34244delGTCTTCTGATATATACCTTGATAGAA GAT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK2AP1_chr12_123255976_123276856	123274766	GGAAGGAA others(22): Show GGAAGGAAGGAAAGAAAGAAAGAAAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	326	0.0031	-29	c.-31 others(40): Show c.-3177_-3149delTTCTTTTTCTTTCTTTCTTTCCTTCCTTC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		2911		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123274770	GGAAGGAA others(22): Show GGAAGGAAAGAAAGAAAGAAAAAGAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 NA18951.hp2 HG02148.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0003g0018 a0001c0001t0001g0130 a0001c0001t0003g0018	2	316	0.0063	-29	c.-31 others(40): Show c.-3181_-3153delTTTCTTCTTTTTCTTTCTTTCTTTCCTTC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		2915		chr12	TogoVar
CDKAL1_chr6_20529457_21237404	20916883	AAAAAAGA others(22): Show AAAAAAGACAAGATCGGGCGCAGTGGCTTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01192.hp1 others(10): Show HG00642.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG02257.hp2 HG02818.hp1 HG02965.hp2 HG03130.hp2 HG03490.hp2 HG03831.hp1 HG04184.hp1 HG04228.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0002c0007 a0004c0014	a0001c0001t0009 a0001c0001t0018 a0001c0002t0001 others(9): Show a0001c0001t0009 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0028 a0001c0002t0034 a0001c0004t0001 a0001c0004t0004 a0001c0005t0006 a0001c0011t0004 a0002c0007t0038 a0004c0014t0008	a0001c0001t0009g0138 a0001c0001t0018g0005 a0001c0002t0001g0149 others(10): Show a0001c0001t0009g0138 a0001c0001t0018g0005 a0001c0002t0001g0149 a0001c0002t0003g0008 a0001c0002t0003g0020 a0001c0002t0028g0103 a0001c0002t0034g0182 a0001c0004t0001g0099 a0001c0004t0004g0102 a0001c0005t0006g0085 a0001c0011t0004g0100 a0002c0007t0038g0173 a0004c0014t0008g0123	13	194	0.0670	-29	c.743 others(48): Show c.743-38532_743-38504delAAGACAAGATCGGGCGCAGTGGCTTG AAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL2_chr4_75571496_75635528	75595975	AAGAAGGA others(22): Show AAGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	304	0.0033	-29	c.141 others(46): Show c.1416+243_1416+271delCTTCCTTCCTTCCTTCCTTCCTTCCTTC T	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	10/13			chr4	TogoVar
CEACAM19_chr19_44666482_44689355	44667876	TAAATATA others(22): Show TAAATATATATAAATTATATATAATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	383	0.0026	-29	c.-40 others(40): Show c.-4055_-4027delAAATATATATAAATTATATATAATATATA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3605		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44668226	ATATTATA others(22): Show ATATTATATTTATATAATATGTTTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01255.hp2 HG02155.hp1 others(13): Show HG00673.hp1 HG01255.hp2 HG02155.hp1 NA18612.hp1 NA18747.hp1 NA18948.hp1 NA18965.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18990.hp2 NA19001.hp2 NA19065.hp1 NA19072.hp2 NA19084.hp1 NA19087.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0005g0002 a0004c0006t0001g0001	16	388	0.0412	-29	c.-37 others(40): Show c.-3705_-3677delTATTATATTTATATAATATGTTTATATAT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3255		chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37202644	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0004 a0001c0001t0082g0004	1	102	0.0098	-29	c.80 others(38): Show c.804_*832delAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding	5/5	940	INFO_REALIGN_3_PRIME	chr2	TogoVar
CEBPZ_chr2_37196612_37236596	37202644	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	95	0.0105	-29	c.302 others(46): Show c.3025+111_3025+139delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CEBPZ	ENSG00000115816.15	transcript	ENST00000234170.10	protein_coding	15/15			chr2	TogoVar
CEMIP_chr15_80774370_80956771	80848953	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG03486.hp2 others(2): Show HG02257.hp2 HG02280.hp2 HG03486.hp2 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0019 a0001c0003 a0001c0011 a0001c0019	a0001c0003t0001 a0001c0003t0004 a0001c0011t0001 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0011t0001 a0001c0019t0021	a0001c0003t0001g0146 a0001c0003t0004g0133 a0001c0011t0001g0130 others(2): Show a0001c0003t0001g0146 a0001c0003t0004g0133 a0001c0011t0001g0130 a0001c0011t0001g0252 a0001c0019t0021g0094	5	6	0.8333	-29	c.-17 others(50): Show c.-175-24561_-175-24533delTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEP126_chr11_101910010_102006062	101911094	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02451.hp1 HG02818.hp2 others(4): Show HG01346.hp1 HG02451.hp1 HG02818.hp2 HG03098.hp1 HG03209.hp1 HG03516.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0006 a0001c0001 a0001c0009 a0004c0006	a0001c0001t0006 a0001c0001t0011 a0001c0001t0036 others(3): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0036 a0001c0001t0037 a0001c0009t0063 a0004c0006t0057	a0001c0001t0006g0004 a0001c0001t0011g0039 a0001c0001t0011g0040 others(4): Show a0001c0001t0006g0004 a0001c0001t0011g0039 a0001c0001t0011g0040 a0001c0001t0036g0302 a0001c0001t0037g0301 a0001c0009t0063g0011 a0004c0006t0057g0045	7	13	0.5385	-29	c.-41 others(40): Show c.-4190_-4162delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3915		chr11	TogoVar
CEP128_chr14_80491479_80946738	80637701	TATCCTAT others(22): Show TATCCTATCAGTAACATCTTTGCAGATGTG	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0138 a0002c0002t0004g0138	1	162	0.0062	-29	c.280 others(50): Show c.2807-57307_2807-57279delCACATCTGCAAAGATGTTACTGAT AGGAT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CES3_chr16_66956266_66980149	66960436	TTTCTTTC others(22): Show TTTCTTTCTCTCTCTCCTTTCTCTCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0031 a0002c0012t0001g0031	1	328	0.0030	-29	c.-87 others(38): Show c.-871_-843delTTCTTTCTCTCTCTCCTTTCTCTCTCTCC	CES3	ENSG00000172828.13	transcript	ENST00000303334.9	protein_coding		829		chr16	TogoVar
CFAP100_chr3_126389909_126441556	126401398	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	420	0.0024	-29	c.49+ others(44): Show c.49+5350_49+5378delATATATATATATATATATATATATATATA	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16			chr3	TogoVar
CFAP141_chr1_154194085_154211333	154203171	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	361	0.0028	-29	c.74+ others(44): Show c.74+2398_74+2426delATATATATATATATATATATATATATATT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP251_chr12_121913592_122008919	121988500	TTTCACTC others(22): Show TTTCACTCACTCAGCATCATGTTTTCCAGG	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0190 a0002c0001t0001g0190	1	352	0.0028	-29	c.300 others(50): Show c.3007-11211_3007-11183delCTCACTCAGCATCATGTTTTCCAG GTTCA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP299_chr4_80330730_80968750	80799322	ATATTTAT others(22): Show ATATTTATATAATATTTATATATATAAATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03017.hp2 HG02451.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0074 a0002c0002t0001g0001 a0002c0002t0001g0074	2	83	0.0241	-29	c.334 others(48): Show c.334-70617_334-70589delAAATGTATTTATATAATATTTATATA TAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132822023	GTGTGAGT others(22): Show GTGTGAGTGCTGATGTGTGCTGATGTGTGC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0047 a0005c0047	a0005c0047t0001 a0005c0047t0001	a0005c0047t0001g0150 a0005c0047t0001g0150	1	244	0.0041	-29	c.711 others(48): Show c.7118-7138_7118-7110delGCACACATCAGCACACATCAGCACTC ACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132864847	GTGCCTGA others(22): Show GTGCCTGAGACCTGCACACACCTGTCCCCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(6): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00733.hp1 HG01081.hp2 NA18940.hp2 NA18960.hp2 NA18980.hp1 NA19060.hp2	a0011 a0018 a0030 others(2): Show a0011 a0018 a0030 a0034 a0071	a0011c0010 a0018c0020 a0030c0056 others(2): Show a0011c0010 a0018c0020 a0030c0056 a0034c0057 a0071c0068	a0011c0010t0001 a0018c0020t0001 a0030c0056t0001 others(2): Show a0011c0010t0001 a0018c0020t0001 a0030c0056t0001 a0034c0057t0001 a0071c0068t0002	a0011c0010t0001g0186 a0011c0010t0001g0187 a0011c0010t0001g0193 others(6): Show a0011c0010t0001g0186 a0011c0010t0001g0187 a0011c0010t0001g0193 a0011c0010t0001g0213 a0018c0020t0001g0202 a0018c0020t0001g0203 a0030c0056t0001g0163 a0034c0057t0001g0234 a0071c0068t0002g0012	9	244	0.0369	-29	c.489 others(48): Show c.4890+1149_4890+1177delGGGGGACAGGTGTGTGCAGGTCTCAG GCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	35/57			chr10	TogoVar
CFAP52_chr17_9571642_9648447	9636182	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA21309.hp2 HG02615.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0004 a0001c0005t0004 a0001c0004t0004 a0001c0005t0004	a0001c0004t0004g0037 a0001c0005t0004g0214 a0001c0004t0004g0037 a0001c0005t0004g0214	2	314	0.0064	-29	c.147 others(46): Show c.1472+627_1472+655delGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	11/13			chr17	TogoVar
CFAP61_chr20_20047532_20365698	20175485	TTTGTTTT others(22): Show TTTGTTTTTGTTTTGTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0015 a0015	a0015c0037 a0015c0037	a0015c0037t0005 a0015c0037t0005	a0015c0037t0005g0138 a0015c0037t0005g0138	1	234	0.0043	-29	c.138 others(48): Show c.1385+6028_1385+6056delGTTTTTGTTTTGTTTTGTTTTGTTTT GTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20296291	CTCCTTCC others(22): Show CTCCTTCCCTTCCTTCCTTCCTTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03834.hp2 HG01169.hp2 HG03834.hp2	a0003 a0012 a0003 a0012	a0003c0005 a0012c0018 a0003c0005 a0012c0018	a0003c0005t0001 a0012c0018t0003 a0003c0005t0001 a0012c0018t0003	a0003c0005t0001g0080 a0012c0018t0003g0122 a0003c0005t0001g0080 a0012c0018t0003g0122	2	233	0.0086	-29	c.321 others(48): Show c.3217-1867_3217-1839delCCCTCCTTCCTTCCCTTCCTTCCTTC CTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP77_chr9_132405211_132578319	132449265	TTGCACTC others(22): Show TTGCACTCACCCTCCTCTCCTACTCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(104): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG06807.hp2 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18980.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19011.hp2 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0016 a0002c0003 a0002c0007 a0002c0017 a0003c0010 a0004c0006 a0005c0009 a0006c0015 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0004t0002 a0001c0005t0002 a0001c0016t0001 a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0002c0007t0002 a0002c0017t0001 a0003c0010t0001 a0004c0006t0001 a0005c0009t0001 a0006c0015t0002 a0009c0012t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0034 others(104): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0002g0138 a0001c0001t0002g0264 a0001c0001t0002g0290 a0001c0001t0003g0135 a0001c0001t0004g0075 a0001c0001t0005g0192 a0001c0001t0006g0296 a0001c0001t0010g0224 a0001c0002t0001g0026 a0001c0002t0001g0040 a0001c0002t0001g0047 a0001c0002t0001g0060 a0001c0002t0001g0082 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0109 a0001c0002t0001g0150 a0001c0002t0001g0170 a0001c0002t0001g0238 a0001c0002t0001g0252 a0001c0002t0001g0256 a0001c0002t0001g0288 a0001c0002t0001g0300 a0001c0002t0001g0314 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0017 a0001c0002t0002g0176 a0001c0002t0002g0276 a0001c0002t0003g0149 a0001c0002t0004g0110 a0001c0002t0009g0315 a0001c0004t0002g0178 a0001c0004t0002g0201 a0001c0004t0002g0248 a0001c0004t0002g0250 a0001c0004t0002g0317 a0001c0004t0002g0322 a0001c0005t0002g0159 a0001c0016t0001g0143 a0002c0003t0001g0015 a0002c0003t0001g0018 a0002c0003t0001g0084 a0002c0003t0001g0100 a0002c0003t0001g0112 a0002c0003t0001g0124 a0002c0003t0001g0205 a0002c0003t0001g0209 a0002c0003t0001g0234 a0002c0003t0001g0236 a0002c0003t0001g0242 a0002c0003t0001g0262 a0002c0003t0001g0286 a0002c0003t0001g0311 a0002c0003t0002g0180 a0002c0007t0001g0160 a0002c0007t0002g0156 a0002c0017t0001g0313 a0003c0010t0001g0266 a0003c0010t0001g0274 a0004c0006t0001g0051 a0005c0009t0001g0247 a0006c0015t0002g0216 a0009c0012t0002g0187	107	320	0.3344	-29	c.195 others(48): Show c.195+38862_195+38890delCTCACCCTCCTCTCCTACTCCTGGCT GCA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132577444	GAGGAGGA others(22): Show GAGGAGGAGCCAATGGGAAGGAAGGGAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	320	0.0031	-29	c.49 others(40): Show c.4935_*4963delAGGAGGAGCCAATGGGAAGGAAGGGAGAA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding		4126		chr9	TogoVar
CFI_chr4_109735695_109806999	109753717	ATAATGTA others(22): Show ATAATGTATAATTTTATATTATATATTATC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02886.hp2 HG00738.hp1 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0004t0001g0154 a0003c0004t0001g0155	2	36	0.0556	-29	c.905 others(46): Show c.905-1243_905-1215delGATAATATATAATATAAAATTATACATT A	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753816	TTTATATT others(22): Show TTTATATTATATATTATATAATGTATAATC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG02027.hp2 others(20): Show HG00673.hp1 HG00735.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp2 HG02155.hp1 HG02280.hp1 HG02523.hp1 HG02559.hp2 HG03239.hp2 HG03486.hp1 HG03831.hp1 NA18747.hp2 NA18906.hp1 NA18952.hp1 NA18954.hp1 NA18979.hp2 NA18982.hp2 NA18994.hp1 NA19002.hp2 NA19064.hp2 NA19081.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(20): Show a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0291 a0001c0002t0001g0292 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0312 a0002c0003t0001g0313 a0002c0003t0001g0314 a0002c0003t0001g0315 a0002c0003t0001g0317 a0002c0003t0001g0318	23	349	0.0659	-29	c.905 others(46): Show c.905-1342_905-1314delGATTATACATTATATAATATATAATATA A	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CGNL1_chr15_57371505_57555717	57405814	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTTTCTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02273.hp1 HG02683.hp1 others(5): Show HG01109.hp2 HG02273.hp1 HG02683.hp1 HG02717.hp1 HG03471.hp2 HG03516.hp2 NA19004.hp2 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0026 others(1): Show a0001c0001 a0002c0002 a0002c0026 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 a0002c0002t0014 a0002c0026t0018 a0006c0007t0005	a0001c0001t0001g0199 a0001c0001t0002g0149 a0001c0001t0002g0216 others(5): Show a0001c0001t0001g0199 a0001c0001t0002g0149 a0001c0001t0002g0216 a0001c0001t0004g0124 a0002c0002t0003g0223 a0002c0002t0014g0121 a0002c0026t0018g0166 a0006c0007t0005g0125	8	292	0.0274	-29	c.-16 others(48): Show c.-16+29259_-16+29287delCTTTTTCTTTCTTTTCTTTTTCTTTC TTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGN_chr1_151506387_151543692	151531808	TTTATCAT others(22): Show TTTATCATTTGTCAATGAAAAATGCACATC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02145.hp1 HG02451.hp2 others(2): Show HG01978.hp1 HG02145.hp1 HG02451.hp2 HG02559.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0007t0005 a0001c0001t0001 a0001c0007t0001 a0001c0007t0005	a0001c0001t0001g0182 a0001c0007t0001g0148 a0001c0007t0001g0150 others(2): Show a0001c0001t0001g0182 a0001c0007t0001g0148 a0001c0007t0001g0150 a0001c0007t0001g0151 a0001c0007t0005g0056	5	370	0.0135	-29	c.257 others(46): Show c.2572-507_2572-479delCTTATCATTTGTCAATGAAAAATGCACA T	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHAC2_chr2_53762804_53780196	53765900	TTCTTTGG others(22): Show TTCTTTGGTGCTCCATTGATAAGAGCACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG01069.hp2 others(22): Show HG00408.hp2 HG00733.hp1 HG01069.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG02451.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG02965.hp2 HG03239.hp1 HG03490.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0033 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0036 a0001c0001t0002g0074 a0001c0001t0002g0078	25	424	0.0590	-29	c.-19 others(40): Show c.-1986_-1958delTCTTTGGTGCTCCATTGATAAGAGCACCC	CHAC2	ENSG00000143942.5	transcript	ENST00000295304.5	protein_coding		1903		chr2	TogoVar
CHADL_chr22_41224513_41245931	41242136	ATATATAC others(22): Show ATATATACATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03139.hp2 HG06807.hp1 others(3): Show HG03130.hp2 HG03139.hp2 HG06807.hp1 NA19000.hp2 NA19240.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0002t0002 a0002c0003t0002	a0002c0002t0002g0203 a0002c0003t0002g0037 a0002c0003t0002g0206 others(1): Show a0002c0002t0002g0203 a0002c0003t0002g0037 a0002c0003t0002g0206 a0002c0003t0002g0207	6	401	0.0150	-29	c.-12 others(40): Show c.-1284_-1256delATATATATATATATATATATATGTATATA	CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding		1206		chr22	TogoVar
CHAF1B_chr21_36380392_36424015	36389068	CGGTACCC others(22): Show CGGTACCCAGCTTGGCAGCTCCTCTGGTTT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	344	0.0029	-29	c.259 others(46): Show c.259+1340_259+1368delGTACCCAGCTTGGCAGCTCCTCTGGTTT G	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD6_chr3_126699240_126965420	126856950	CCAGCTGT others(22): Show CCAGCTGTTTTGGGGTGAGTGGTAGTTTGT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	214	0.0047	-29	c.495 others(46): Show c.495+4221_495+4249delCAGCTGTTTTGGGGTGAGTGGTAGTTTG T	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHEK2_chr22_28682743_28746820	28745339	GGAGTTCA others(22): Show GGAGTTCAAGACCAGCCTGGTCAAGATGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(135): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19079.hp1 NA19083.hp1 NA19087.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0005c0006 a0006c0011	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0005c0006t0001 a0006c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0352 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0074 a0005c0006t0001g0136 a0006c0011t0001g0039	138	382	0.3613	-29	c.-36 others(40): Show c.-3606_-3578delACCATCTTGACCAGGCTGGTCTTGAACTC	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding		3520		chr22	TogoVar
CHGB_chr20_5906510_5930353	5926063	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18981.hp2 HG00558.hp1 NA18981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0015 a0003c0003t0003g0027 a0003c0003t0003g0015 a0003c0003t0003g0027	2	435	0.0046	-29	c.10 others(40): Show c.1015_*1043delAAAAAATATATATATATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		711		chr20	TogoVar
CHGB_chr20_5906510_5930353	5926069	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02886.hp1 HG03516.hp1 HG02145.hp1 HG02886.hp1 HG03516.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0024 a0011c0011t0001g0059 a0011c0011t0001g0024 a0011c0011t0001g0059	3	311	0.0096	-29	c.10 others(40): Show c.1021_*1049delTATATATATATATATATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		717		chr20	TogoVar
CHMP3_chr2_86498430_86568443	86562329	AAGCACTG others(22): Show AAGCACTGATGTGCACACTAATCATTAGGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG02896.hp1 others(5): Show HG02486.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG03130.hp1 HG03516.hp1 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0025 a0001c0001t0001g0158 a0001c0001t0001g0159 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0018g0161	8	334	0.0240	-29	c.45+ others(42): Show c.45+946_45+974delCCCTAATGATTAGTGTGCACATCAGTGCT	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar

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