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
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG00735.hp2 others(24): Show HG00639.hp2 HG00673.hp1 HG00735.hp2 HG01074.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp1 NA18747.hp2 NA18954.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18980.hp2 NA18983.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19066.hp1 NA19086.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0002c0002 a0006c0006 others(1): Show a0001c0001 a0002c0002 a0006c0006 a0009c0013	a0001c0001t0001 a0002c0002t0001 a0006c0006t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0006c0006t0001 a0009c0013t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0163 others(24): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0163 a0001c0001t0001g0180 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0002c0002t0001g0227 a0006c0006t0001g0205 a0009c0013t0001g0206 a0009c0013t0001g0210	27	308	0.0877	16	c.58+ others(31): Show c.58+6239_58+6254dupTTTTTTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196692719	T T	TCTTTCTC others(9): Show TCTTTCTCTTTCCCTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01175.hp1 others(30): Show HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 others(4): Show a0001 a0004 a0008 a0010 a0012 a0017 a0018	a0001c0001 a0004c0004 a0008c0009 others(4): Show a0001c0001 a0004c0004 a0008c0009 a0010c0011 a0012c0012 a0017c0022 a0018c0025	a0001c0001t0001 a0004c0004t0001 a0008c0009t0001 others(4): Show a0001c0001t0001 a0004c0004t0001 a0008c0009t0001 a0010c0011t0001 a0012c0012t0001 a0017c0022t0002 a0018c0025t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0001g0134 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0004c0004t0001g0057 a0004c0004t0001g0060 a0004c0004t0001g0070 a0004c0004t0001g0078 a0004c0004t0001g0079 a0004c0004t0001g0088 a0004c0004t0001g0126 a0004c0004t0001g0142 a0004c0004t0001g0160 a0008c0009t0001g0127 a0008c0009t0001g0147 a0008c0009t0001g0190 a0010c0011t0001g0304 a0010c0011t0001g0306 a0012c0012t0001g0164 a0012c0012t0001g0175 a0017c0022t0002g0006 a0018c0025t0001g0194	33	308	0.1071	16	c.133 others(35): Show c.1336+2486_1336+2487insCTTTCCCTTCCTTTCT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196692876	C C	CACCTACC others(9): Show CACCTACCTACCTACCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01192.hp1 HG02109.hp1 others(8): Show HG01071.hp1 HG01192.hp1 HG02109.hp1 HG02451.hp1 HG02698.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0007 a0001c0001 a0004c0004 a0007c0007	a0001c0001t0001 a0004c0004t0001 a0007c0007t0002 a0001c0001t0001 a0004c0004t0001 a0007c0007t0002	a0001c0001t0001g0247 a0004c0004t0001g0057 a0004c0004t0001g0058 others(7): Show a0001c0001t0001g0247 a0004c0004t0001g0057 a0004c0004t0001g0058 a0004c0004t0001g0060 a0004c0004t0001g0061 a0004c0004t0001g0088 a0004c0004t0001g0265 a0007c0007t0002g0001 a0007c0007t0002g0022 a0007c0007t0002g0024	11	308	0.0357	16	c.133 others(35): Show c.1336+2641_1336+2642insACCTACCTACCTACCT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196692897	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18972.hp1 NA19072.hp2 HG02145.hp2 NA18972.hp1 NA19072.hp2	a0007 a0013 a0007 a0013	a0007c0007 a0013c0014 a0007c0007 a0013c0014	a0007c0007t0002 a0013c0014t0001 a0007c0007t0002 a0013c0014t0001	a0007c0007t0002g0300 a0013c0014t0001g0017 a0013c0014t0001g0018 a0007c0007t0002g0300 a0013c0014t0001g0017 a0013c0014t0001g0018	3	308	0.0097	16	c.133 others(35): Show c.1336+2661_1336+2662insTCCTTCCTTCCTTCCT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196692901	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18946.hp2 NA18951.hp1 others(6): Show HG02132.hp2 NA18946.hp2 NA18951.hp1 NA18970.hp1 NA18979.hp2 NA18980.hp2 NA18991.hp2 NA18997.hp2 NA19087.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0133 a0001c0001t0001g0181 a0001c0001t0001g0200 others(6): Show a0001c0001t0001g0133 a0001c0001t0001g0181 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0237 a0004c0004t0001g0063	9	308	0.0292	16	c.133 others(35): Show c.1336+2680_1336+2695dupCTTCCTTCCTTCCTTC	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714635	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0025 a0005c0005t0002g0025	1	308	0.0033	16	c.151 others(33): Show c.1519+737_1519+752dupTATATATATATATATA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714635	G G	GTGTATAT others(9): Show GTGTATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0022 a0007c0007t0002g0022	1	308	0.0033	16	c.151 others(33): Show c.1519+719_1519+720insGTATATATGTATATAT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714666	T T	TAGAGAGA others(9): Show TAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0026 a0005c0005t0002g0026	1	308	0.0033	16	c.151 others(33): Show c.1519+750_1519+751insGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATAGA others(9): Show TATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02886.hp2 HG01261.hp2 HG02886.hp2	a0004 a0018 a0004 a0018	a0004c0004 a0018c0025 a0004c0004 a0018c0025	a0004c0004t0001 a0018c0025t0001 a0004c0004t0001 a0018c0025t0001	a0004c0004t0001g0078 a0018c0025t0001g0194 a0004c0004t0001g0078 a0018c0025t0001g0194	2	308	0.0065	16	c.151 others(33): Show c.1519+752_1519+753insTATAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(9): Show TATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0002 a0017c0022t0002	a0017c0022t0002g0006 a0017c0022t0002g0006	1	308	0.0033	16	c.151 others(33): Show c.1519+752_1519+753insTATATAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(9): Show TATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03942.hp1 HG01361.hp1 HG03942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0101 a0003c0003t0001g0124 a0003c0003t0001g0101 a0003c0003t0001g0124	2	308	0.0065	16	c.151 others(33): Show c.1519+752_1519+753insTATATATATATAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714701	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02698.hp1 homoSapiens_chm13v2.hp1 HG02698.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0060 a0004c0004t0001g0061 a0004c0004t0001g0060 a0004c0004t0001g0061	2	308	0.0065	16	c.151 others(33): Show c.1519+799_1519+800insGGAGAGAGAGAGAGAG	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109753295	T T	TAAATAAA others(9): Show TAAATAAATATTATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18950.hp2 HG03195.hp1 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0148 a0002c0003t0001g0259 a0001c0001t0003g0148 a0002c0003t0001g0259	2	354	0.0057	16	c.905 others(31): Show c.905-793_905-792insTATATAATATTTATTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753354	T T	TAAATAAA others(9): Show TAAATAAATATTATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	354	0.0028	16	c.905 others(31): Show c.905-852_905-851insTATATAATATTTATTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753443	T T	TAAATAAA others(9): Show TAAATAAATATTATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0296 a0001c0002t0003g0296	1	354	0.0028	16	c.905 others(31): Show c.905-941_905-940insTATATAATATTTATTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753481	T T	TTATAATA others(9): Show TTATAATATATTTATTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG03239.hp1 HG01074.hp2 HG01243.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0126 a0001c0002t0001g0217 a0001c0002t0001g0119 a0001c0002t0001g0126 a0001c0002t0001g0217	3	354	0.0085	16	c.905 others(31): Show c.905-979_905-978insTAATAAATATATTATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756888	G G	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02055.hp2 HG02886.hp1 others(4): Show HG00558.hp1 HG02055.hp2 HG02886.hp1 NA18906.hp2 NA18939.hp2 NA18985.hp2 NA19070.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0165 a0001c0002t0001g0035 a0001c0002t0001g0075 others(4): Show a0001c0001t0001g0165 a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0111 a0001c0002t0001g0175 a0003c0004t0001g0021 a0004c0005t0001g0102	7	354	0.0198	16	c.904 others(31): Show c.904+859_904+874dupTTTCTTTCTTTCTTTC	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(9): Show TAATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	354	0.0028	16	c.58- others(33): Show c.58-16988_58-16987insTATATATATATATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GAGATATT others(9): Show GAGATATTCATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19002.hp2 NA18994.hp1 NA19002.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0310 a0002c0003t0001g0311	2	354	0.0057	16	c.58- others(33): Show c.58-16989_58-16988insATATATATGAATATCT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01993.hp1 HG01975.hp1 HG01993.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0014 a0001c0002 a0007c0014	a0001c0002t0001 a0007c0014t0001 a0001c0002t0001 a0007c0014t0001	a0001c0002t0001g0073 a0007c0014t0001g0297 a0001c0002t0001g0073 a0007c0014t0001g0297	2	354	0.0057	16	c.58- others(33): Show c.58-17004_58-16989dupATATATATATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201114013	G G	GATATATA others(9): Show GATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0197 a0001c0001t0006g0197	1	234	0.0043	16	c.-26 others(27): Show c.-2606_-2605insATATATATATATATAT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2150		chr2	TogoVar
CFTR_chr7_117475025_117673665	117490312	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19085.hp2 NA19065.hp1 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0188 a0002c0002t0001g0189	2	202	0.0099	16	c.53+ others(33): Show c.53+10193_53+10208dupCACACACACACACACA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117499429	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02886.hp1 HG06807.hp2 HG01243.hp2 HG02886.hp1 HG06807.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0015 a0001c0001 a0013c0015	a0001c0001t0002 a0013c0015t0003 a0001c0001t0002 a0013c0015t0003	a0001c0001t0002g0117 a0001c0001t0002g0176 a0013c0015t0003g0074 a0001c0001t0002g0117 a0001c0001t0002g0176 a0013c0015t0003g0074	3	202	0.0149	16	c.54- others(31): Show c.54-4806_54-4791dupGTGTGTGTGTGTGTGT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117548333	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 homoSapiens_chm13v2.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0006 a0001c0004t0001 a0001c0006t0006	a0001c0004t0001g0012 a0001c0006t0006g0005 a0001c0004t0001g0012 a0001c0006t0006g0005	2	202	0.0099	16	c.121 others(33): Show c.1210-291_1210-276dupGTGTGTGTGTGTGTGT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117558553	C C	CTAAATAA others(9): Show CTAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA20805.hp2 HG01516.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0010 a0001c0004t0001g0011	2	202	0.0099	16	c.139 others(33): Show c.1393-890_1393-875dupTAAATAAATAAATAAA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612009	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03688.hp2 NA19072.hp2 HG02523.hp1 HG03688.hp2 NA19072.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0028 a0001c0001 a0002c0002 a0011c0028	a0001c0001t0002 a0002c0002t0002 a0011c0028t0002 a0001c0001t0002 a0002c0002t0002 a0011c0028t0002	a0001c0001t0002g0058 a0002c0002t0002g0088 a0011c0028t0002g0031 a0001c0001t0002g0058 a0002c0002t0002g0088 a0011c0028t0002g0031	3	202	0.0149	16	c.336 others(33): Show c.3367+214_3367+215insATGTATATATATATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGAS_chr6_73418711_73457297	73449476	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02004.hp1 HG02486.hp2 others(8): Show HG01123.hp2 HG02004.hp1 HG02486.hp2 NA18612.hp1 NA18945.hp2 NA18973.hp1 NA18991.hp1 NA19001.hp2 NA19055.hp2 NA19060.hp1 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 others(5): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0003t0031 a0001c0003t0063 a0001c0003t0066 a0001c0006t0003 a0001c0006t0055	a0001c0002t0002g0206 a0001c0002t0006g0314 a0001c0002t0006g0317 others(8): Show a0001c0002t0002g0206 a0001c0002t0006g0314 a0001c0002t0006g0317 a0001c0003t0001g0315 a0001c0003t0031g0312 a0001c0003t0031g0313 a0001c0003t0063g0311 a0001c0003t0066g0316 a0001c0006t0003g0309 a0001c0006t0003g0310 a0001c0006t0055g0207	11	410	0.0268	16	c.657 others(33): Show c.657+2033_657+2048dupGTGTGTGTGTGTGTGT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73449508	C C	CACACACA others(9): Show CACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00621.hp1 others(35): Show HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp2 HG01928.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02293.hp1 HG02451.hp1 HG02735.hp1 HG02738.hp2 HG03492.hp2 HG03710.hp2 HG03942.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18966.hp2 NA18985.hp1 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19081.hp2 NA19085.hp1 NA20805.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0001c0003 a0011c0013 a0001c0002 a0001c0003 a0011c0013	a0001c0002t0007 a0001c0002t0013 a0001c0002t0024 others(10): Show a0001c0002t0007 a0001c0002t0013 a0001c0002t0024 a0001c0002t0033 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0003t0004 a0001c0003t0010 a0001c0003t0023 a0001c0003t0047 a0001c0003t0048 a0011c0013t0023	a0001c0002t0007g0015 a0001c0002t0007g0049 a0001c0002t0007g0061 others(33): Show a0001c0002t0007g0015 a0001c0002t0007g0049 a0001c0002t0007g0061 a0001c0002t0007g0070 a0001c0002t0007g0071 a0001c0002t0007g0074 a0001c0002t0007g0076 a0001c0002t0007g0078 a0001c0002t0007g0079 a0001c0002t0007g0080 a0001c0002t0007g0082 a0001c0002t0007g0083 a0001c0002t0013g0072 a0001c0002t0013g0073 a0001c0002t0024g0085 a0001c0002t0033g0086 a0001c0002t0043g0068 a0001c0002t0044g0077 a0001c0002t0045g0099 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0060 a0001c0003t0004g0069 a0001c0003t0004g0075 a0001c0003t0004g0098 a0001c0003t0004g0101 a0001c0003t0010g0014 a0001c0003t0010g0052 a0001c0003t0010g0053 a0001c0003t0010g0055 a0001c0003t0010g0058 a0001c0003t0010g0084 a0001c0003t0023g0059 a0001c0003t0047g0081 a0001c0003t0048g0054 a0011c0013t0023g0033	38	410	0.0927	16	c.657 others(33): Show c.657+2016_657+2017insTTGTGTGTGTGTGTGT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03225.hp1 HG02109.hp2 HG03225.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0183 a0002c0001t0009g0201 a0002c0001t0009g0183 a0002c0001t0009g0201	2	410	0.0049	16	c.-13 others(27): Show c.-1388_-1387insAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGGBP1_chr3_88046950_88064005	88050344	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	358	0.0028	16	c.51 others(27): Show c.5128_*5129insAAAAAAAAAAAAAAAA	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding		1605		chr3	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0021 a0021	a0021c0035 a0021c0035	a0021c0035t0012 a0021c0035t0012	a0021c0035t0012g0284 a0021c0035t0012g0284	1	294	0.0034	16	c.-16 others(35): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57396277	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	294	0.0034	16	c.-16 others(35): Show c.-16+19712_-16+19727dupTTTTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57409037	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01099.hp2 HG01884.hp1 others(3): Show HG00544.hp1 HG01099.hp2 HG01884.hp1 HG02055.hp2 HG02717.hp1 NA18980.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0002c0002 a0002c0008 others(1): Show a0001c0001 a0002c0002 a0002c0008 a0018c0021	a0001c0001t0001 a0001c0001t0002 a0002c0002t0014 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0014 a0002c0008t0003 a0018c0021t0008	a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0002g0212 others(3): Show a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0002g0212 a0002c0002t0014g0121 a0002c0008t0003g0220 a0018c0021t0008g0007	6	294	0.0204	16	c.-15 others(35): Show c.-15-28927_-15-28912dupCACACACACACACACA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57409037	T T	TCTCACAC others(9): Show TCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0162 a0003c0003t0001g0162	1	294	0.0034	16	c.-15 others(35): Show c.-15-28947_-15-28946insTCACACACACACACAC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57413206	T T	TCTCTCTT others(9): Show TCTCTCTTCCTCTCTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02055.hp2 others(21): Show HG01109.hp1 HG01255.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02630.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0011 a0014 a0018	a0001c0001 a0001c0039 a0002c0002 others(6): Show a0001c0001 a0001c0039 a0002c0002 a0002c0038 a0004c0004 a0006c0007 a0011c0013 a0014c0016 a0018c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0039t0010 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0014 a0002c0002t0034 a0002c0002t0037 a0002c0038t0012 a0004c0004t0001 a0006c0007t0005 a0011c0013t0009 a0014c0016t0001 a0014c0016t0004 a0018c0021t0008	a0001c0001t0001g0044 a0001c0001t0001g0126 a0001c0001t0001g0127 others(21): Show a0001c0001t0001g0044 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0165 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0004g0047 a0001c0001t0004g0091 a0001c0001t0004g0163 a0001c0001t0010g0262 a0001c0039t0010g0046 a0002c0002t0007g0045 a0002c0002t0008g0039 a0002c0002t0013g0114 a0002c0002t0014g0040 a0002c0002t0034g0090 a0002c0002t0037g0161 a0002c0038t0012g0123 a0004c0004t0001g0011 a0006c0007t0005g0027 a0011c0013t0009g0012 a0014c0016t0001g0008 a0014c0016t0004g0009 a0018c0021t0008g0007	24	294	0.0816	16	c.-15 others(35): Show c.-15-24775_-15-24760dupTCTTCCTCTCTTCCTC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57413206	T T	TCTCTCTT others(9): Show TCTCTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp1 HG06807.hp2 HG02280.hp2 HG02717.hp1 HG06807.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0021 a0002c0002t0014 a0006c0007t0009 a0001c0001t0021 a0002c0002t0014 a0006c0007t0009	a0001c0001t0021g0116 a0002c0002t0014g0121 a0006c0007t0009g0122 a0001c0001t0021g0116 a0002c0002t0014g0121 a0006c0007t0009g0122	3	294	0.0102	16	c.-15 others(35): Show c.-15-24769_-15-24768insTTCTTCCTCTCTTCCT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20129.hp1 HG03139.hp1 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0039 a0006c0007 a0001c0039 a0006c0007	a0001c0039t0010 a0006c0007t0005 a0001c0039t0010 a0006c0007t0005	a0001c0039t0010g0046 a0006c0007t0005g0027 a0001c0039t0010g0046 a0006c0007t0005g0027	2	294	0.0068	16	c.169 others(33): Show c.1698-185_1698-170dupAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(9): Show GGAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0092 a0002c0002t0018g0092	1	294	0.0034	16	c.169 others(33): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0114 a0001c0002t0002g0114	1	352	0.0028	16	c.-12 others(33): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54505924	T T	TAGTGAGC others(9): Show TAGTGAGCACATCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	338	0.0030	16	c.-40 others(27): Show c.-4036_-4035insAGTGAGCACATCTGCA	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding		3981		chr14	TogoVar
CGRRF1_chr14_54504906_54544292	54535359	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG01099.hp1 others(43): Show HG00408.hp1 HG00558.hp2 HG01099.hp1 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02738.hp2 HG02809.hp1 HG03453.hp1 HG03704.hp2 HG04184.hp2 NA18747.hp2 NA18953.hp1 NA18961.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA19005.hp1 NA19010.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0026 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0002c0002t0002g0008 a0002c0002t0002g0191 a0002c0002t0002g0194 a0002c0002t0002g0196 a0002c0002t0002g0202 a0002c0002t0002g0204 a0002c0002t0002g0208 a0002c0002t0002g0211	46	338	0.1361	16	c.571 others(33): Show c.571-2343_571-2328dupACACACACACACACAC	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
CGRRF1_chr14_54504906_54544292	54538849	G G	GAAATAAC others(9): Show GAAATAACAGCTTTTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp1 NA19000.hp1 NA18966.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0100 a0001c0001t0008g0027 a0001c0001t0008g0100	2	338	0.0059	16	c.47 others(25): Show c.472_*487dupACAGCTTTTATAAATA	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	6/6	488	INFO_REALIGN_3_PRIME	chr14	TogoVar
CHAF1A_chr19_4397640_4448397	4401608	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG00733.hp1 others(30): Show HG00639.hp1 HG00673.hp1 HG00733.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp2 NA18964.hp1 NA18968.hp2 NA18975.hp1 NA18989.hp2 NA19003.hp2 NA19030.hp1 NA19043.hp2 NA19062.hp2 NA19068.hp1 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0001c0003t0003 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0003t0003 a0001c0003t0009 a0001c0007t0001 a0002c0002t0002	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 others(30): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0238 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0010g0119 a0001c0003t0003g0278 a0001c0003t0003g0298 a0001c0003t0003g0308 a0001c0003t0003g0322 a0001c0003t0009g0286 a0001c0007t0001g0124 a0002c0002t0002g0052	33	384	0.0859	16	c.-11 others(27): Show c.-1155_-1154insAAGGAAGGAAGGAAGG	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding		1031		chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02165.hp1 HG02717.hp2 others(4): Show HG02145.hp1 HG02165.hp1 HG02717.hp2 NA18951.hp1 NA18993.hp2 NA19086.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0234 others(4): Show a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0273 a0002c0002t0002g0029 a0002c0002t0002g0083	7	384	0.0182	16	c.104 others(31): Show c.104-427_104-412dupTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp1 HG01255.hp1 others(20): Show HG00544.hp1 HG01109.hp1 HG01255.hp1 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02109.hp2 HG02257.hp2 HG02273.hp2 HG02615.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG04228.hp2 NA18522.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0010	a0001c0003 a0002c0002 a0002c0012 others(3): Show a0001c0003 a0002c0002 a0002c0012 a0003c0004 a0006c0008 a0010c0015	a0001c0003t0003 a0002c0002t0002 a0002c0012t0002 others(3): Show a0001c0003t0003 a0002c0002t0002 a0002c0012t0002 a0003c0004t0002 a0006c0008t0003 a0010c0015t0003	a0001c0003t0003g0283 a0001c0003t0003g0288 a0001c0003t0003g0289 others(20): Show a0001c0003t0003g0283 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0290 a0001c0003t0003g0292 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0318 a0002c0002t0002g0105 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0114 a0002c0012t0002g0365 a0003c0004t0002g0334 a0003c0004t0002g0335 a0003c0004t0002g0336 a0003c0004t0002g0339 a0003c0004t0002g0340 a0003c0004t0002g0341 a0003c0004t0002g0342 a0003c0004t0002g0344 a0006c0008t0003g0314 a0010c0015t0003g0291	23	384	0.0599	16	c.960 others(33): Show c.960+1891_960+1906dupTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	384	0.0026	16	c.137 others(35): Show c.1378-1512_1378-1497dupTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(9): Show TGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0305 a0001c0001t0024g0305	1	346	0.0029	16	c.260 others(33): Show c.260-1750_260-1749insTGTGTGCGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(9): Show TGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02922.hp2 others(1): Show HG01516.hp1 HG01517.hp2 HG02922.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 others(1): Show a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315	4	346	0.0116	16	c.260 others(33): Show c.260-1750_260-1749insTGTGTGTGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 NA19043.hp2 HG01257.hp1 HG01258.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0084 a0001c0001t0001g0004 a0001c0001t0001g0084	3	346	0.0087	16	c.260 others(33): Show c.260-1750_260-1749insTGTGTGTGTGTGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36420336	G G	GTTCATTC others(9): Show GTTCATTCATTCATTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	346	0.0029	16	c.39 others(27): Show c.3970_*3971insTTCATTCATTCATTCA	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding		1322		chr21	TogoVar

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