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
RERE_chr1_8347404_8822640	8809157	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0003 a0007c0025t0003	a0007c0025t0003g0135 a0007c0025t0003g0135	1	204	0.0049	24	c.-14 others(43): Show c.-145+8002_-145+8003insATTTTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15126128	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02004.hp1 HG02015.hp2 others(2): Show HG00423.hp1 HG02004.hp1 HG02015.hp2 NA18988.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0117 a0001c0001t0002g0216 a0001c0002t0001g0198 others(2): Show a0001c0001t0002g0117 a0001c0001t0002g0216 a0001c0002t0001g0198 a0001c0002t0001g0256 a0001c0002t0001g0264	5	300	0.0167	24	c.62- others(39): Show c.62-5033_62-5010dupATATATATATATATATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02135.hp2 HG02818.hp1 others(4): Show HG02074.hp2 HG02135.hp2 HG02818.hp1 NA18956.hp2 NA18984.hp1 NA19002.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0144 others(4): Show a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0144 a0001c0001t0001g0170 a0001c0001t0001g0223 a0001c0001t0002g0064 a0001c0002t0001g0258	7	300	0.0233	24	c.62- others(41): Show c.62-40043_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01243.hp1 HG03041.hp1 others(3): Show HG00408.hp2 HG01243.hp1 HG03041.hp1 NA18946.hp1 NA19082.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010	a0001c0001t0003g0019 a0001c0001t0003g0033 a0001c0001t0003g0067 others(3): Show a0001c0001t0003g0019 a0001c0001t0003g0033 a0001c0001t0003g0067 a0001c0001t0006g0072 a0001c0001t0010g0003 a0001c0001t0010g0004	6	408	0.0147	24	c.-28 others(35): Show c.-2894_-2893insATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0201 a0004c0004t0005g0201	1	408	0.0025	24	c.-28 others(35): Show c.-2875_-2874insTATATATATATATATATATATATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(17): Show TGTATGTATGTATGTGTATGCATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	24	c.-23 others(35): Show c.-2310_-2309insGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759715	G G	GTATGTAT others(17): Show GTATGTATGTGTATACATACATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02735.hp1 HG04184.hp2 HG00597.hp1 HG02735.hp1 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	3	452	0.0066	24	c.-25 others(35): Show c.-2531_-2530insTATATGTATGTATACACATACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2306		chr3	TogoVar
RETREG1_chr5_16468053_16621997	16541739	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA20752.hp2 NA18950.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0084 a0001c0001t0001g0040 a0001c0001t0001g0084	2	294	0.0068	24	c.458 others(43): Show c.458+24000_458+24023dupTTCCTTCCTTCCTTCCTTCCTTCC	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG1_chr5_16468053_16621997	16541739	G G	GGGAGGGA others(17): Show GGGAGGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0174 a0001c0002t0011g0174	1	294	0.0034	24	c.458 others(43): Show c.458+24023_458+24024insTTCCTTCCTTCCTTCCTTCCCTCC	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
REV1_chr2_99395477_99495017	99454550	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0260	1	324	0.0031	24	c.182 others(41): Show c.182-5070_182-5047dupTTTTTTTTTTTTTTTTTTTTTTTT	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	3/22			chr2	TogoVar
REV1_chr2_99395477_99495017	99490085	C C	CCCGGCCC others(17): Show CCCGGCCCCGCCCACGCCCCCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	324	0.0031	24	c.-28 others(33): Show c.-280_-279insCGGAGGGGGCGTGGGCGGGGCCGG	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding		69		chr2	TogoVar
REV1_chr2_99395477_99495017	99490085	C C	CCGGCCCC others(17): Show CCGGCCCCGCCCACGCCCCCCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0213 a0003c0003t0001g0213	1	324	0.0031	24	c.-28 others(33): Show c.-280_-279insCGGAGGGGGGCGTGGGCGGGGCCG	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding		69		chr2	TogoVar
REV3L_chr6_111294033_111488218	111303701	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	288	0.0035	24	c.925 others(43): Show c.9253-3569_9253-3546dupAAAAAAAAAAAAAAAAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
REV3L_chr6_111294033_111488218	111338312	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	288	0.0035	24	c.753 others(43): Show c.7539-2726_7539-2703dupAAAAAAAAAAAAAAAAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	21/31			chr6	TogoVar
REXO5_chr16_20801527_20854665	20820512	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	372	0.0027	24	c.476 others(41): Show c.476-1240_476-1217dupATATATATATATATATATATATAT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820544	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	372	0.0027	24	c.476 others(41): Show c.476-1217_476-1216insATATATATATATATATATATATTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820544	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	372	0.0027	24	c.476 others(41): Show c.476-1217_476-1216insATATATATATATATATATATTTTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18951.hp2 NA18942.hp1 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0115 a0001c0002t0002g0116	2	276	0.0073	24	c.332 others(41): Show c.332-1395_332-1372dupTTTTTTTTTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC3_chr13_33813149_33842500	33834298	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18991.hp2 NA18955.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0095 a0001c0001t0002g0100	2	416	0.0048	24	c.810 others(39): Show c.810-849_810-848insGTGTATATATATATATATATATAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(17): Show TATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02280.hp2 HG02630.hp2 others(4): Show HG00423.hp2 HG02280.hp2 HG02630.hp2 HG03704.hp1 NA18942.hp2 NA18953.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0016 a0001c0001t0002g0069 a0001c0001t0002g0117 others(1): Show a0001c0001t0002g0016 a0001c0001t0002g0069 a0001c0001t0002g0117 a0001c0001t0010g0016	7	416	0.0168	24	c.810 others(39): Show c.810-817_810-816insATATATATATATATACACATACAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFC4_chr3_186784900_186811482	186802927	A A	ACTCCTGT others(17): Show ACTCCTGTCATGTGAGAACCTGCCC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0065 a0006c0005t0001g0065	1	432	0.0023	24	c.131 others(41): Show c.131+1632_131+1655dupGGGCAGGTTCTCACATGACAGGAG	RFC4	ENSG00000163918.12	transcript	ENST00000296273.7	protein_coding	2/10			chr3	TogoVar
RFC5_chr12_118011703_118037234	118034574	G G	GCTCTCTC others(17): Show GCTCTCTCTCTCTCTCGCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	438	0.0023	24	c.32 others(35): Show c.3296_*3297insCTCTCTCTCTCTCTCGCTCTCTCT	RFC5	ENSG00000111445.14	transcript	ENST00000454402.7	protein_coding		2341		chr12	TogoVar
RFC5_chr12_118011703_118037234	118034574	G G	GCTCTCTC others(17): Show GCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02155.hp2 HG02698.hp2 others(13): Show HG00639.hp2 HG02155.hp2 HG02698.hp2 HG03239.hp2 HG03710.hp2 HG04228.hp2 NA18747.hp1 NA18944.hp1 NA18947.hp1 NA18952.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18989.hp1 NA19002.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0098	16	438	0.0365	24	c.32 others(35): Show c.3296_*3297insCTCTCTCTCTCTCTCTCTCTCTCT	RFC5	ENSG00000111445.14	transcript	ENST00000454402.7	protein_coding		2341		chr12	TogoVar
RFK_chr9_76380526_76399426	76382319	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	408	0.0025	24	c.50 others(35): Show c.5079_*5080insTAAATAAATAAATAAATAAATAAA	RFK	ENSG00000135002.12	transcript	ENST00000376736.6	protein_coding		3206		chr9	TogoVar
RFLNA_chr12_124290093_124321024	124310172	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	388	0.0026	24	c.208 others(41): Show c.208-1645_208-1622dupAAAAAAAAAAAAAAAAAAAAAAAA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320092	T T	TTCTTTGG others(17): Show TTCTTTGGGGGTAGGTGGGATGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG04199.hp1 HG02602.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0010 a0001c0002t0007 a0001c0002t0010	a0001c0002t0007g0219 a0001c0002t0010g0152 a0001c0002t0007g0219 a0001c0002t0010g0152	2	388	0.0052	24	c.55 others(35): Show c.5567_*5568insTCTTTGGGGGTAGGTGGGATGACA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4069		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320521	G G	GGATGACC others(17): Show GGATGACCTCTTTGGGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0023 a0001c0004t0002 a0001c0002t0023 a0001c0004t0002	a0001c0002t0023g0140 a0001c0002t0023g0141 a0001c0004t0002g0264 a0001c0002t0023g0140 a0001c0002t0023g0141 a0001c0004t0002g0264	3	388	0.0077	24	c.59 others(35): Show c.5996_*5997insGATGACCTCTTTGGGGGTAGGTGA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4498		chr12	TogoVar
RFTN1_chr3_16310845_16518699	16345264	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	268	0.0037	24	c.114 others(45): Show c.1146+12644_1146+12667dupCACACACACACACACACACACACA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16387570	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02572.hp2 HG02630.hp2 HG01516.hp2 HG02572.hp2 HG02630.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0004 a0003c0004t0001 a0002c0003t0004 a0003c0004t0001	a0002c0003t0004g0037 a0002c0003t0004g0171 a0003c0004t0001g0008 a0002c0003t0004g0037 a0002c0003t0004g0171 a0003c0004t0001g0008	3	268	0.0112	24	c.442 others(41): Show c.442-9492_442-9469dupGAGAGAGAGAGAGAGAGAGAGAGA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16403970	T T	TATATAAT others(17): Show TATATAATATATAATATATATTTTA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18957.hp1 NA18986.hp1 NA18950.hp2 NA18957.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0067 a0001c0001t0001g0141 a0001c0005t0002g0194 a0001c0001t0001g0067 a0001c0001t0001g0141 a0001c0005t0002g0194	3	268	0.0112	24	c.441 others(41): Show c.441+5404_441+5405insTAAAATATATATTATATATTATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197626562	C C	CAAATAAA others(17): Show CAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0154	1	312	0.0032	24	c.928 others(41): Show c.928+4425_928+4448dupATTTATTTATTTATTTATTTATTT	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	5/8			chr2	TogoVar
RFWD3_chr16_74616399_74671877	74666819	C C	CCCGCCGA others(17): Show CCCGCCGAAGACTCGGTAGTTACCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp1 others(141): Show HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18982.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0015	a0001c0002 a0001c0008 a0002c0001 others(3): Show a0001c0002 a0001c0008 a0002c0001 a0004c0006 a0009c0014 a0015c0015	a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 others(17): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 a0001c0002t0044 a0001c0002t0046 a0001c0002t0049 a0001c0008t0048 a0002c0001t0001 a0002c0001t0010 a0002c0001t0038 a0002c0001t0039 a0002c0001t0040 a0002c0001t0041 a0002c0001t0042 a0002c0001t0043 a0002c0001t0045 a0004c0006t0001 a0004c0006t0019 a0009c0014t0047 a0015c0015t0001	a0001c0002t0001g0374 a0001c0002t0001g0375 a0001c0002t0001g0376 others(137): Show a0001c0002t0001g0374 a0001c0002t0001g0375 a0001c0002t0001g0376 a0001c0002t0001g0377 a0001c0002t0006g0359 a0001c0002t0006g0360 a0001c0002t0006g0361 a0001c0002t0006g0362 a0001c0002t0006g0363 a0001c0002t0006g0364 a0001c0002t0006g0365 a0001c0002t0006g0366 a0001c0002t0006g0367 a0001c0002t0006g0368 a0001c0002t0006g0369 a0001c0002t0014g0258 a0001c0002t0014g0357 a0001c0002t0014g0358 a0001c0002t0044g0336 a0001c0002t0046g0378 a0001c0002t0049g0353 a0001c0008t0048g0352 a0002c0001t0001g0014 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0257 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0264 a0002c0001t0001g0265 a0002c0001t0001g0266 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0273 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0278 a0002c0001t0001g0279 a0002c0001t0001g0281 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0285 a0002c0001t0001g0286 a0002c0001t0001g0290 a0002c0001t0001g0292 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0295 a0002c0001t0001g0296 a0002c0001t0001g0297 a0002c0001t0001g0298 a0002c0001t0001g0299 a0002c0001t0001g0300 a0002c0001t0001g0301 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0001g0304 a0002c0001t0001g0305 a0002c0001t0001g0306 a0002c0001t0001g0307 a0002c0001t0001g0308 a0002c0001t0001g0309 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0318 a0002c0001t0001g0319 a0002c0001t0001g0320 a0002c0001t0001g0321 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0001g0325 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0333 a0002c0001t0001g0334 a0002c0001t0001g0335 a0002c0001t0001g0337 a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0340 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0345 a0002c0001t0001g0346 a0002c0001t0001g0347 a0002c0001t0001g0348 a0002c0001t0001g0349 a0002c0001t0001g0350 a0002c0001t0001g0351 a0002c0001t0001g0354 a0002c0001t0001g0355 a0002c0001t0001g0356 a0002c0001t0001g0370 a0002c0001t0001g0371 a0002c0001t0001g0372 a0002c0001t0001g0373 a0002c0001t0010g0254 a0002c0001t0010g0267 a0002c0001t0010g0272 a0002c0001t0010g0326 a0002c0001t0010g0344 a0002c0001t0038g0288 a0002c0001t0039g0289 a0002c0001t0040g0253 a0002c0001t0041g0291 a0002c0001t0042g0314 a0002c0001t0043g0315 a0002c0001t0045g0280 a0004c0006t0001g0262 a0004c0006t0001g0263 a0004c0006t0001g0277 a0004c0006t0001g0287 a0004c0006t0019g0018 a0009c0014t0047g0324 a0015c0015t0001g0332	144	412	0.3495	24	c.-60 others(31): Show c.-60_-37dupAGGTAACTACCGAGTCTTCGGCGG	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	1/13	5371		chr16	TogoVar
RFWD3_chr16_74616399_74671877	74666825	G G	GAAGACTC others(17): Show GAAGACTCGGTAGTTACCTCCGCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0024 a0002c0001t0024	a0002c0001t0024g0135 a0002c0001t0024g0135	1	412	0.0024	24	c.-43 others(31): Show c.-43_-42insAGGCGGAGGTAACTACCGAGTCTT	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	1/13	5377		chr16	TogoVar
RFWD3_chr16_74616399_74671877	74666843	T T	TCCGCCGA others(17): Show TCCGCCGAAGACTCGGTAGTTACCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02615.hp1 NA20300.hp2 HG01109.hp1 HG02615.hp1 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0018 a0002c0001t0054 a0002c0001t0018 a0002c0001t0054	a0002c0001t0018g0383 a0002c0001t0018g0384 a0002c0001t0054g0385 a0002c0001t0018g0383 a0002c0001t0018g0384 a0002c0001t0054g0385	3	412	0.0073	24	c.-61 others(31): Show c.-61_-60insCGGTAACTACCGAGTCTTCGGCGG	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	1/13	5395		chr16	TogoVar
RFX3_chr9_3213297_3531001	3270081	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02886.hp1 others(9): Show HG02257.hp2 HG02486.hp2 HG02886.hp1 HG02965.hp2 HG03130.hp2 HG03654.hp2 NA18971.hp1 NA18999.hp1 NA19003.hp1 NA19070.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0023 a0001c0001t0026 a0001c0001t0029 a0001c0001t0033 a0001c0001t0073 a0001c0004t0048	a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0110 others(9): Show a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0110 a0001c0001t0005g0138 a0001c0001t0007g0024 a0001c0001t0016g0022 a0001c0001t0023g0072 a0001c0001t0026g0196 a0001c0001t0029g0089 a0001c0001t0033g0002 a0001c0001t0073g0192 a0001c0004t0048g0180	12	196	0.0612	24	c.135 others(41): Show c.1357+266_1357+289dupTTTCTTTCTTTCTTTCTTTCTTTC	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	11/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3292061	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	196	0.0051	24	c.731 others(40): Show c.731+992_731+1015dupTTTTTTTTTTTTTTTTTTTTTTTT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	6/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3356155	T T	TGGAAGGA others(17): Show TGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0147 a0001c0001t0024g0147	1	196	0.0051	24	c.118 others(41): Show c.118-9415_118-9392dupTTCCTTCCTTCCTTCCTTCCTTCC	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX4_chr12_106578004_106767803	106641967	C C	CTATCTAT others(17): Show CTATCTATATCTATATCTATATCTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG06807.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0002t0001g0136 a0001c0001t0001g0024 a0001c0002t0001g0136	2	296	0.0068	24	c.191 others(41): Show c.191+2607_191+2630dupATCTATATCTATATCTATATCTAT	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX4_chr12_106578004_106767803	106739125	C C	CAGAAAGA others(17): Show CAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03492.hp2 HG01099.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0138 a0001c0002t0001g0119 a0001c0002t0001g0138	2	296	0.0068	24	c.163 others(43): Show c.1633+6046_1633+6069dupGAAAGAAAGAAAGAAAGAAAGAAA	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX6_chr6_116872242_116937161	116936488	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 NA18989.hp2 NA18991.hp1 others(3): Show HG03831.hp1 NA18989.hp2 NA18991.hp1 NA18997.hp1 NA19059.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0033 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0166	6	372	0.0161	24	c.49 others(35): Show c.4982_*4983insAGAGAGAGAGAGAGAGAGAGAGAG	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding		4328		chr6	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	ACTATATA others(17): Show ACTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG04184.hp1 NA18971.hp2 HG00323.hp1 HG04184.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0008 a0001c0002t0002 a0001c0004t0008	a0001c0002t0002g0085 a0001c0004t0008g0214 a0001c0004t0008g0224 a0001c0002t0002g0085 a0001c0004t0008g0214 a0001c0004t0008g0224	3	360	0.0083	24	c.401 others(41): Show c.401+1121_401+1122insATATATATATATATATATATATAG	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX7_chr15_56082280_56248879	56224467	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	360	0.0028	24	c.161 others(43): Show c.161+18634_161+18657dupCACACACACACACACACACACACA	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	2/9			chr15	TogoVar
RGL3_chr19_11389060_11424314	11414448	T T	TATATATA others(17): Show TATATATATACCTTCATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0177 a0006c0009t0001g0177	1	402	0.0025	24	c.637 others(41): Show c.637+1488_637+1489insGTATATATATGAAGGTATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGMA_chr15_93030271_93094211	93033475	G G	GAGGTGGG others(17): Show GAGGTGGGGAGGTGGAGAGGTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02109.hp2 HG02896.hp1 HG02897.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0024 a0001c0004t0075 a0001c0007t0074 a0001c0004t0024 a0001c0004t0075 a0001c0007t0074	a0001c0004t0024g0134 a0001c0004t0024g0388 a0001c0004t0075g0133 others(1): Show a0001c0004t0024g0134 a0001c0004t0024g0388 a0001c0004t0075g0133 a0001c0007t0074g0314	4	414	0.0097	24	c.11 others(37): Show c.11522_*11523insTCCCACCTCTCCACCTCCCCACCT	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding		1795		chr15	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01070.hp2 others(3): Show HG00140.hp1 HG00280.hp1 HG01070.hp2 HG01071.hp1 HG01168.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0015 a0001c0001t0222 a0002c0006t0106 a0001c0001t0015 a0001c0001t0222 a0002c0006t0106	a0001c0001t0015g0008 a0001c0001t0015g0130 a0001c0001t0015g0234 others(2): Show a0001c0001t0015g0008 a0001c0001t0015g0130 a0001c0001t0015g0234 a0001c0001t0222g0384 a0002c0006t0106g0226	6	414	0.0145	24	c.64 others(35): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGMB_chr5_98768663_98801494	98780947	A A	ACTAACCA others(17): Show ACTAACCACCTCCTTCCGTGTCTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	376	0.0027	24	c.645 others(39): Show c.645+860_645+883dupCTAACCACCTCCTTCCGTGTCTTT	RGMB	ENSG00000174136.13	transcript	ENST00000513185.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGN_chrX_47073443_47098313	47074256	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	304	0.0033	24	c.-50 others(35): Show c.-5089_-5088insAAGAAAGAAAGAAAGAAAGAAAGG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4186		chrX	TogoVar
RGPD2_chr2_87750960_87830796	87825555	C C	CGAGGCCG others(17): Show CGAGGCCGAGGCCGCCGCCCGGCCG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	176	0.0057	24	c.72+ others(37): Show c.72+102_72+103insCGGCCGGGCGGCGGCCTCGGCCTC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3425864	T T	TGGGGCCT others(17): Show TGGGGCCTGCACAGGGTAGGGGGCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0025 a0025	a0025c0039 a0025c0039	a0025c0039t0001 a0025c0039t0001	a0025c0039t0001g0258 a0025c0039t0001g0258	1	312	0.0032	24	c.333 others(41): Show c.3331+306_3331+307insGGCCTGCACAGGGTAGGGGGCAGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS14_chr5_177352924_177377596	177371069	C C	CGGGCCGG others(17): Show CGGGCCGGGGCCGGGGCCGGGGCCG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	418	0.0024	24	c.125 others(39): Show c.1255-63_1255-40dupGCCGGGGCCGGGGCCGGGGCCGGG	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar

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