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
REPS1_chr6_138898493_138993253	138955457	A A	AAGTGTGT others(12): Show AAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG01981.hp2 others(7): Show HG00280.hp2 HG00673.hp2 HG01981.hp2 HG02970.hp2 NA18952.hp1 NA18966.hp2 NA18981.hp1 NA18990.hp1 NA19009.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0167 a0001c0001t0001g0238 others(7): Show a0001c0001t0001g0117 a0001c0001t0001g0167 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0305	10	70	0.1429	19	c.154 others(36): Show c.154-7545_154-7544insACACACACACACACACACT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138969269	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18992.hp2 HG00597.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0275 a0001c0001t0001g0262 a0001c0001t0001g0275	2	50	0.0400	19	c.153 others(38): Show c.153+18242_153+18260dupAAAAAAAAAAAAAAAAAAA	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	17093200	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp1 HG01071.hp1 others(13): Show HG00438.hp2 HG01069.hp1 HG01071.hp1 HG01433.hp1 HG02293.hp2 HG02738.hp1 HG02895.hp1 HG02965.hp1 HG03130.hp1 HG03239.hp2 HG03486.hp2 HG03654.hp1 NA18522.hp1 NA18960.hp1 NA19058.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0027 a0001c0001t0001g0122 a0001c0001t0001g0125 others(13): Show a0001c0001t0001g0027 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0004g0028 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0133	16	119	0.1345	19	c.151 others(40): Show c.1517-10518_1517-10517insTATATATATATATATATAT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17			chrX	TogoVar
RER1_chr1_2386841_2410436	2401124	C C	CCAGTGCC others(12): Show CCAGTGCCCTGGAGGTTGAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0062 a0001c0001t0020g0062	1	352	0.0028	19	c.365 others(34): Show c.365+190_365+208dupCAGTGCCCTGGAGGTTGAG	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8369508	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0119 a0001c0004t0010g0119	1	45	0.0222	19	c.128 others(38): Show c.1285-3553_1285-3535dupTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8372543	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	198	0.0051	19	c.128 others(38): Show c.1285-6570_1285-6569insCACACACACACACACACAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8403825	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	29	0.0345	19	c.128 others(40): Show c.1284+18883_1284+18901dupAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8423884	G G	GCCCCGGC others(12): Show GCCCCGGCCCCGCCCCCCGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0108 a0001c0003t0011g0108	1	202	0.0050	19	c.120 others(38): Show c.1204-1078_1204-1077insGCGGGGGGCGGGGCCGGGG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8496150	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0040 a0001c0004t0040	a0001c0004t0040g0199 a0001c0004t0040g0199	1	178	0.0056	19	c.100 others(37): Show c.1005-1007_1005-989dupTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	9/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8512014	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02976.hp1 HG02698.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0074 a0001c0003t0004g0035 a0001c0001t0001g0074 a0001c0003t0004g0035	2	35	0.0571	19	c.831 others(36): Show c.831-3358_831-3340dupAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02735.hp2 HG04228.hp2 others(2): Show HG00544.hp1 HG02735.hp2 HG04228.hp2 NA19000.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0023 a0001c0004t0005 a0001c0004t0025 others(1): Show a0001c0001t0023 a0001c0004t0005 a0001c0004t0025 a0001c0007t0003	a0001c0001t0023g0114 a0001c0004t0005g0079 a0001c0004t0025g0080 others(2): Show a0001c0001t0023g0114 a0001c0004t0005g0079 a0001c0004t0025g0080 a0001c0007t0003g0098 a0001c0007t0003g0099	5	36	0.1389	19	c.831 others(36): Show c.831-7571_831-7553dupTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03579.hp1 HG03688.hp2 others(1): Show HG02129.hp2 HG03579.hp1 HG03688.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0032 a0001c0001t0001 a0001c0001t0003 a0001c0002t0032	a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0003g0102 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0003g0102 a0001c0002t0032g0155	4	32	0.1250	19	c.523 others(36): Show c.523-1776_523-1758dupTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03540.hp2 HG02280.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0015 a0001c0010t0013 a0001c0003t0015 a0001c0010t0013	a0001c0003t0015g0147 a0001c0010t0013g0023 a0001c0003t0015g0147 a0001c0010t0013g0023	2	16	0.1250	19	c.522 others(36): Show c.522+7008_522+7026dupAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8617343	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0122 a0001c0004t0005g0122	1	100	0.0100	19	c.397 others(36): Show c.397-2658_397-2657insTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	3/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161227	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	298	0.0034	19	c.62- others(36): Show c.62-40109_62-40108insCTTTCTTTCTTTCTTTCTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RESF1_chr12_31954415_31998107	31956083	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02129.hp1 HG02135.hp2 others(2): Show HG00423.hp2 HG02129.hp1 HG02135.hp2 HG03239.hp1 NA18962.hp1	a0004 a0007 a0004 a0007	a0004c0004 a0007c0007 a0004c0004 a0007c0007	a0004c0004t0001 a0007c0007t0001 a0004c0004t0001 a0007c0007t0001	a0004c0004t0001g0285 a0004c0004t0001g0300 a0004c0004t0001g0308 others(2): Show a0004c0004t0001g0285 a0004c0004t0001g0300 a0004c0004t0001g0308 a0004c0004t0001g0309 a0007c0007t0001g0142	5	325	0.0154	19	c.-37 others(30): Show c.-3750_-3749insTTTTTTTTTTTTTTTTTTT	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3331		chr12	TogoVar
RETN_chr19_7664049_7675455	7674859	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02040.hp2 HG03041.hp2 others(5): Show HG00408.hp2 HG02040.hp2 HG03041.hp2 HG04115.hp2 HG04199.hp1 NA18612.hp2 NA19063.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0008g0003 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0008g0003	8	57	0.1404	19	c.45 others(30): Show c.4510_*4511insTTTTTTTTTTTTTTTTTTT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		4405		chr19	TogoVar
RETREG1_chr5_16468053_16621997	16527800	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04228.hp1 HG03669.hp2 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0104 a0001c0002t0002g0055 a0001c0002t0002g0104	2	52	0.0385	19	c.458 others(38): Show c.458+37944_458+37962dupAAAAAAAAAAAAAAAAAAA	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RET_chr10_43072069_43135351	43134492	A A	AAGCTTGC others(12): Show AAGCTTGCAGTTTTAAAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	380	0.0026	19	c.62 others(30): Show c.6223_*6224insAGCTTGCAGTTTTAAAGGT	RET	ENSG00000165731.21	transcript	ENST00000355710.8	protein_coding		4142		chr10	TogoVar
REV1_chr2_99395477_99495017	99407080	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0084 a0003c0003t0001g0084	1	18	0.0556	19	c.244 others(36): Show c.2449-609_2449-591dupAAAAAAAAAAAAAAAAAAA	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	15/22			chr2	TogoVar
REXO5_chr16_20801527_20854665	20820512	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	304	0.0033	19	c.476 others(36): Show c.476-1250_476-1249insATATATATATATATATATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
REXO5_chr16_20801527_20854665	20820544	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	328	0.0030	19	c.476 others(36): Show c.476-1217_476-1216insATATATATATATATTTTTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820545	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG04228.hp2 NA18612.hp1 others(3): Show HG01167.hp2 HG04228.hp2 NA18612.hp1 NA18972.hp2 NA19000.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0060 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0060 a0001c0001t0001g0141 a0001c0001t0001g0239 a0001c0002t0001g0009	6	342	0.0175	19	c.476 others(36): Show c.476-1217_476-1216insATATATATATATATATATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA19240.hp1 HG01168.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0161 a0001c0002t0002g0049 a0001c0001t0001g0161 a0001c0002t0002g0049	2	19	0.1053	19	c.332 others(36): Show c.332-1390_332-1372dupTTTTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296072	T T	TTTTCTTT others(12): Show TTTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0109	1	349	0.0029	19	c.207 others(34): Show c.207+450_207+451insCTTTCTTTCTTTCTTTCTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124310172	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(43): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01978.hp2 HG02027.hp2 HG02083.hp1 HG02135.hp1 HG02165.hp2 HG02738.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG04184.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18980.hp1 NA18990.hp1 NA18998.hp1 NA19007.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0002t0004	a0001c0001t0001g0009 a0001c0001t0001g0039 a0001c0001t0001g0040 others(42): Show a0001c0001t0001g0009 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0247 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0300 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0362 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0005g0013 a0001c0001t0005g0094 a0001c0001t0005g0125 a0001c0001t0005g0129 a0001c0001t0005g0158 a0001c0001t0005g0258 a0001c0001t0008g0114 a0001c0001t0008g0116 a0001c0001t0008g0134 a0001c0001t0008g0227 a0001c0001t0012g0303 a0001c0001t0015g0184 a0001c0001t0015g0278 a0001c0002t0004g0319	46	61	0.7541	19	c.208 others(36): Show c.208-1640_208-1622dupAAAAAAAAAAAAAAAAAAA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16313205	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	180	0.0056	19	c.36 others(30): Show c.3622_*3623insAAAAAAAAAAAAAAAAAAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding		2639		chr3	TogoVar
RFTN1_chr3_16310845_16518699	16398244	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0009 a0002c0003t0003g0009	1	42	0.0238	19	c.441 others(38): Show c.441+11112_441+11130dupTTTTTTTTTTTTTTTTTTT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404418	A A	AATATATA others(12): Show AATATATAATATATATATAC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0117	1	266	0.0038	19	c.441 others(36): Show c.441+4956_441+4957insGTATATATATATTATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197665517	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02109.hp2 HG02145.hp1 others(11): Show HG00642.hp1 HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03486.hp2 HG03579.hp1 NA18970.hp2 NA18972.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(11): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0172 a0001c0001t0003g0063 a0001c0001t0003g0072 a0001c0001t0003g0173 a0001c0001t0007g0171 a0001c0001t0008g0185 a0001c0001t0009g0046 a0001c0001t0009g0135 a0001c0001t0010g0053 a0001c0001t0011g0184 a0001c0001t0011g0188	14	120	0.1167	19	c.139 others(36): Show c.139+9802_139+9803insAAAAAAAAAAAAAAAAAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	1/8			chr2	TogoVar
RFX3_chr9_3213297_3531001	3366703	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	194	0.0052	19	c.118 others(38): Show c.118-19958_118-19940dupGAAAGAAAGAAAGAAAGAA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3410209	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	194	0.0052	19	c.-8- others(36): Show c.-8-14614_-8-14613insACACACACACACACACACA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX6_chr6_116872242_116937161	116936488	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 NA19003.hp2 HG01993.hp2 NA19003.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0002 a0001c0001t0001 a0004c0005t0002	a0001c0001t0001g0135 a0004c0005t0002g0021 a0001c0001t0001g0135 a0004c0005t0002g0021	2	48	0.0417	19	c.49 others(30): Show c.4982_*4983insGAGAGAGAGAGAGAGAGAG	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding		4328		chr6	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 NA18994.hp1 HG02040.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0205 a0001c0002t0048g0302 a0001c0002t0048g0205 a0001c0002t0048g0302	2	281	0.0071	19	c.64 others(30): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGPD2_chr2_87750960_87830796	87824786	G G	GCCGCCGC others(12): Show GCCGCCGCCGCCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02486.hp1 HG03942.hp2 HG02273.hp2 HG02486.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0001g0089 a0001c0001t0001g0134 a0001c0001t0001g0156	3	96	0.0313	19	c.72+ others(32): Show c.72+871_72+872insGGCCGGGCGGCGGCGGCGG	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106412293	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18951.hp1 NA19085.hp2 HG00558.hp2 NA18951.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078	3	46	0.0652	19	c.526 others(36): Show c.5266+772_5266+790dupAAAAAAAAAAAAAAAAAAA	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	22/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106450881	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19066.hp1 NA20805.hp1 NA18973.hp2 NA19066.hp1 NA20805.hp1	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0004 a0005c0005 a0006c0006 a0004c0004 a0005c0005 a0006c0006	a0004c0004t0003 a0005c0005t0001 a0006c0006t0001 a0004c0004t0003 a0005c0005t0001 a0006c0006t0001	a0004c0004t0003g0031 a0005c0005t0001g0164 a0006c0006t0001g0067 a0004c0004t0003g0031 a0005c0005t0001g0164 a0006c0006t0001g0067	3	49	0.0612	19	c.782 others(36): Show c.782+1323_782+1324insTTTTTTTTTTTTTTTTTTT	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	6/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3300461	C C	CCCTGGGA others(12): Show CCCTGGGAGGAGGAGGACTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG02004.hp2 others(15): Show HG01167.hp1 HG01243.hp2 HG02004.hp2 HG02132.hp1 HG02145.hp2 HG02523.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp2 HG03471.hp1 HG03579.hp1 HG03710.hp1 HG04184.hp1 NA19030.hp2	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0038 a0005c0012 a0005c0051 others(4): Show a0004c0038 a0005c0012 a0005c0051 a0005c0052 a0005c0054 a0006c0015 a0006c0046	a0004c0038t0001 a0005c0012t0001 a0005c0051t0001 others(4): Show a0004c0038t0001 a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 a0005c0054t0001 a0006c0015t0002 a0006c0046t0002	a0004c0038t0001g0145 a0005c0012t0001g0150 a0005c0012t0001g0151 others(15): Show a0004c0038t0001g0145 a0005c0012t0001g0150 a0005c0012t0001g0151 a0005c0012t0001g0153 a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0159 a0005c0051t0001g0152 a0005c0052t0001g0158 a0005c0054t0001g0154 a0006c0015t0002g0091 a0006c0015t0002g0093 a0006c0015t0002g0094 a0006c0015t0002g0095 a0006c0015t0002g0096 a0006c0015t0002g0097 a0006c0046t0002g0092	18	310	0.0581	19	c.-10 others(38): Show c.-102+7369_-102+7387dupAGGAGGAGGACTGCCTGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS16_chr1_182593623_182609389	182594305	C C	CGAAGAAA others(12): Show CGAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	64	0.0156	19	c.59 others(30): Show c.5986_*5987insTTTCTTTCTTTCTTTCTTC	RGS16	ENSG00000143333.7	transcript	ENST00000367558.6	protein_coding		4317		chr1	TogoVar
RGS16_chr1_182593623_182609389	182594343	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	19	c.59 others(30): Show c.5948_*5949insCTTTCTTTCTTTCTTTCTT	RGS16	ENSG00000143333.7	transcript	ENST00000367558.6	protein_coding		4279		chr1	TogoVar
RGS21_chr1_192311992_192372285	192367229	T T	TAGACAAA others(12): Show TAGACAAAATTTTGTCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp1 others(55): Show HG00639.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02698.hp1 HG02818.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18990.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19056.hp2 NA19059.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0010 others(47): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0209 a0001c0001t0003g0238 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0013g0153	58	300	0.1933	19	c.11 others(30): Show c.1106_*1124dupAGACAAAATTTTGTCTTCC	RGS21	ENSG00000253148.1	transcript	ENST00000417209.2	protein_coding	5/5	1125	INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS5_chr1_163137299_163207916	163180686	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp1 HG02109.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0036 a0001c0001t0002g0037	2	129	0.0155	19	c.45- others(36): Show c.45-12337_45-12319dupAAAAAAAAAAAAAAAAAAA	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	1/4			chr1	TogoVar
RGS6_chr14_71927429_72571530	72053053	C C	CTTCCCTC others(12): Show CTTCCCTCCCTTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02559.hp2 HG03209.hp2 others(4): Show HG02523.hp1 HG02559.hp2 HG03209.hp2 HG03540.hp2 HG06807.hp1 NA18974.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 a0001c0002t0002 a0001c0002t0012	a0001c0001t0002g0077 a0001c0001t0004g0089 a0001c0001t0010g0007 others(4): Show a0001c0001t0002g0077 a0001c0001t0004g0089 a0001c0001t0010g0007 a0001c0001t0019g0058 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0012g0125	7	93	0.0753	19	c.84+ others(36): Show c.84+88179_84+88180insTCCCTCCCTTCCCTCCCTT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72259910	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG03098.hp1 others(2): Show HG01099.hp2 HG01106.hp2 HG03098.hp1 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0037 a0001c0001t0005g0001 a0001c0001t0007g0097 others(2): Show a0001c0001t0001g0037 a0001c0001t0005g0001 a0001c0001t0007g0097 a0001c0001t0008g0112 a0001c0001t0016g0010	5	16	0.3125	19	c.85- others(36): Show c.85-92182_85-92164dupAAAAAAAAAAAAAAAAAAA	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72506984	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0039 a0001c0001t0032g0039	1	5	0.2000	19	c.966 others(36): Show c.966-3153_966-3135dupAAAAAAAAAAAAAAAAAAA	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	26	0.0385	19	c.6+ others(34): Show c.6+7029_*6+7030insAAAAAAAAAAAAATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240842199	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG02451.hp2 others(11): Show HG01081.hp2 HG01884.hp1 HG02451.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03486.hp2 NA18992.hp1 NA19068.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0041 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0042 a0001c0001t0002g0099 a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0005g0021	14	24	0.5833	19	c.610 others(38): Show c.610-15028_610-15027insAAAAAAAAAAAAAAAAAAA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	9/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241071874	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	3	0.3333	19	c.175 others(38): Show c.175+26773_175+26791dupTTTTTTTTTTTTTTTTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241259667	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	23	0.0435	19	c.78+ others(36): Show c.78+96031_78+96032insATTTTTTTTTTTTTTTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241259667	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	23	0.0435	19	c.78+ others(36): Show c.78+96031_78+96032insATATTTTTTTTTTTTTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar

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