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
RERE_chr1_8347404_8822640	8635977	C C	CTTATCTT others(8): Show CTTATCTTATTTTATT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0099 a0001c0007t0003g0099	1	204	0.0049	15	c.326 others(34): Show c.326-11598_326-11597insAATAAAATAAGATAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8726147	C C	CTTTTCTT others(8): Show CTTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0001t0003 a0001c0002t0005	a0001c0001t0003g0122 a0001c0002t0005g0132 a0001c0001t0003g0122 a0001c0002t0005g0132	2	204	0.0098	15	c.-14 others(36): Show c.-144-69707_-144-69706insAAAAAAAAAAGAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15126156	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	300	0.0033	15	c.62- others(30): Show c.62-5038_62-5037insTATATATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15212042	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03669.hp2 NA18975.hp1 others(1): Show HG01981.hp2 HG03669.hp2 NA18975.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0039 others(1): Show a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0005g0033	4	300	0.0133	15	c.61+ others(30): Show c.61+5372_61+5386dupAAAAAAAAAAAAAAA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RESF1_chr12_31954415_31998107	31956083	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02897.hp1 others(3): Show HG02055.hp1 HG02559.hp1 HG02897.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0035	a0002c0010 a0004c0004 a0006c0006 others(1): Show a0002c0010 a0004c0004 a0006c0006 a0035c0036	a0002c0010t0001 a0002c0010t0005 a0004c0004t0003 others(2): Show a0002c0010t0001 a0002c0010t0005 a0004c0004t0003 a0006c0006t0001 a0035c0036t0003	a0002c0010t0001g0257 a0002c0010t0005g0335 a0004c0004t0003g0245 others(3): Show a0002c0010t0001g0257 a0002c0010t0005g0335 a0004c0004t0003g0245 a0004c0004t0003g0247 a0006c0006t0001g0086 a0035c0036t0003g0246	6	452	0.0133	15	c.-37 others(26): Show c.-3750_-3749insTTTTTTTTTTTTTTT	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3331		chr12	TogoVar
RESF1_chr12_31954415_31998107	31956096	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(19): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01168.hp2 HG01515.hp1 HG01981.hp1 HG02280.hp2 HG02300.hp1 HG03098.hp1 HG03927.hp2 HG04184.hp1 NA18943.hp1 NA18963.hp2 NA19054.hp1 NA19082.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0008 a0012 a0017	a0001c0001 a0002c0003 a0003c0002 others(5): Show a0001c0001 a0002c0003 a0003c0002 a0003c0027 a0006c0006 a0008c0008 a0012c0013 a0017c0018	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 others(6): Show a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0003c0002t0004 a0003c0027t0001 a0006c0006t0001 a0008c0008t0001 a0012c0013t0001 a0017c0018t0001	a0001c0001t0001g0051 a0002c0003t0001g0352 a0003c0002t0001g0002 others(17): Show a0001c0001t0001g0051 a0002c0003t0001g0352 a0003c0002t0001g0002 a0003c0002t0001g0012 a0003c0002t0001g0013 a0003c0002t0001g0053 a0003c0002t0001g0058 a0003c0002t0001g0061 a0003c0002t0001g0064 a0003c0002t0001g0066 a0003c0002t0001g0069 a0003c0002t0001g0070 a0003c0002t0001g0082 a0003c0002t0004g0332 a0003c0027t0001g0062 a0006c0006t0001g0077 a0008c0008t0001g0041 a0012c0013t0001g0343 a0012c0013t0001g0344 a0017c0018t0001g0168	22	452	0.0487	15	c.-37 others(26): Show c.-3737_-3736insTTTTTTTTTTTTTTG	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3318		chr12	TogoVar
REST_chr4_56902900_56940844	56905333	T T	TATATATA others(8): Show TATATATATAAAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0093 a0001c0001t0008g0093	1	408	0.0025	15	c.-28 others(26): Show c.-2890_-2889insATATATATAAAAATA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2566		chr4	TogoVar
REST_chr4_56902900_56940844	56907875	T T	TGGCGGCG others(8): Show TGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(120): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0010 a0012 a0015 a0016	a0001c0001 a0002c0002 a0002c0007 others(6): Show a0001c0001 a0002c0002 a0002c0007 a0002c0024 a0006c0011 a0010c0014 a0012c0016 a0015c0015 a0016c0020	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(18): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0024 a0002c0002t0029 a0002c0002t0030 a0002c0002t0032 a0002c0002t0034 a0002c0007t0001 a0002c0007t0028 a0002c0024t0001 a0006c0011t0001 a0010c0014t0001 a0012c0016t0012 a0015c0015t0001 a0016c0020t0001	a0001c0001t0001g0223 a0001c0001t0001g0226 a0002c0002t0001g0010 others(102): Show a0001c0001t0001g0223 a0001c0001t0001g0226 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0209 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0240 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0289 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0297 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0007g0011 a0002c0002t0007g0047 a0002c0002t0007g0048 a0002c0002t0007g0233 a0002c0002t0007g0269 a0002c0002t0007g0270 a0002c0002t0007g0271 a0002c0002t0007g0272 a0002c0002t0007g0274 a0002c0002t0007g0275 a0002c0002t0007g0276 a0002c0002t0007g0290 a0002c0002t0007g0298 a0002c0002t0008g0220 a0002c0002t0008g0236 a0002c0002t0008g0237 a0002c0002t0012g0260 a0002c0002t0012g0273 a0002c0002t0013g0288 a0002c0002t0013g0291 a0002c0002t0014g0227 a0002c0002t0014g0280 a0002c0002t0015g0238 a0002c0002t0015g0250 a0002c0002t0024g0241 a0002c0002t0029g0047 a0002c0002t0030g0225 a0002c0002t0032g0210 a0002c0002t0034g0301 a0002c0007t0001g0294 a0002c0007t0001g0295 a0002c0007t0028g0296 a0002c0024t0001g0022 a0006c0011t0001g0283 a0006c0011t0001g0284 a0010c0014t0001g0232 a0012c0016t0012g0211 a0015c0015t0001g0265 a0016c0020t0001g0219	123	408	0.3015	15	c.-34 others(24): Show c.-348_-347insGGCGGCGGCGGCGGC	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		24		chr4	TogoVar
RETN_chr19_7664049_7675455	7674859	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	458	0.0022	15	c.45 others(26): Show c.4510_*4511insTTTTTTTTTTTTTTT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		4405		chr19	TogoVar
RETREG1_chr5_16468053_16621997	16527800	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	294	0.0034	15	c.458 others(34): Show c.458+37948_458+37962dupAAAAAAAAAAAAAAA	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETSAT_chr2_85336955_85359528	85340296	C C	CCTCATCT others(8): Show CCTCATCTCTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	384	0.0026	15	c.29 others(26): Show c.2945_*2946insCCAGGCAGAGATGAG	RETSAT	ENSG00000042445.14	transcript	ENST00000295802.9	protein_coding		1658		chr2	TogoVar
RETSAT_chr2_85336955_85359528	85349051	A A	ATTTTTGG others(8): Show ATTTTTGGGTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03471.hp1 HG03516.hp2 HG02257.hp1 HG03471.hp1 HG03516.hp2	a0001 a0012 a0001 a0012	a0001c0009 a0012c0015 a0001c0009 a0012c0015	a0001c0009t0005 a0001c0009t0013 a0012c0015t0005 a0001c0009t0005 a0001c0009t0013 a0012c0015t0005	a0001c0009t0005g0044 a0001c0009t0013g0045 a0012c0015t0005g0043 a0001c0009t0005g0044 a0001c0009t0013g0045 a0012c0015t0005g0043	3	384	0.0078	15	c.997 others(30): Show c.997+332_997+333insAAAAAAACCCAAAAA	RETSAT	ENSG00000042445.14	transcript	ENST00000295802.9	protein_coding	5/10			chr2	TogoVar
REV1_chr2_99395477_99495017	99407080	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18989.hp2 HG00609.hp1 NA18989.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0090 a0003c0003t0001g0093 a0003c0003t0001g0090 a0003c0003t0001g0093	2	324	0.0062	15	c.244 others(32): Show c.2449-605_2449-591dupAAAAAAAAAAAAAAA	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	15/22			chr2	TogoVar
REV3L_chr6_111294033_111488218	111303701	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	288	0.0035	15	c.925 others(34): Show c.9253-3560_9253-3546dupAAAAAAAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
REV3L_chr6_111294033_111488218	111408602	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02027.hp2 HG02523.hp1 others(4): Show HG00639.hp2 HG02027.hp2 HG02523.hp1 NA18612.hp1 NA18939.hp2 NA18957.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0187 a0002c0002t0001g0191 others(4): Show a0002c0002t0001g0156 a0002c0002t0001g0187 a0002c0002t0001g0191 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0231 a0002c0002t0001g0234	7	288	0.0243	15	c.404 others(32): Show c.404+2863_404+2877dupGTTTTGTTTTGTTTT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	3/31			chr6	TogoVar
REXO5_chr16_20801527_20854665	20820544	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	372	0.0027	15	c.476 others(32): Show c.476-1217_476-1216insATATATATATATTTT	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(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19065.hp1 NA19075.hp1 HG01884.hp2 NA19065.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0002t0001g0264 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0002t0001g0264	3	372	0.0081	15	c.476 others(32): Show c.476-1217_476-1216insATATATATATATATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03017.hp1 NA18943.hp2 HG00558.hp1 HG03017.hp1 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0132 a0001c0002t0002g0178 a0001c0002t0002g0113 a0001c0002t0002g0132 a0001c0002t0002g0178	3	276	0.0109	15	c.332 others(32): Show c.332-1386_332-1372dupTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39348188	G G	GAGACAGG others(8): Show GAGACAGGCCAATCAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	276	0.0036	15	c.133 others(32): Show c.133-2727_133-2713dupGTGATTGGCCTGTCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02109.hp1 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0256 a0002c0005t0001g0163 a0001c0001t0001g0256 a0002c0005t0001g0163	2	276	0.0073	15	c.132 others(32): Show c.132+2909_132+2923dupCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296072	T T	TTTTCTTT others(8): Show TTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01943.hp2 HG03942.hp2 others(2): Show HG01358.hp2 HG01943.hp2 HG03942.hp2 HG04228.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 others(2): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0008g0106	5	388	0.0129	15	c.207 others(30): Show c.207+450_207+451insCTTTCTTTCTTTCTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296139	T T	TTCTTCTC others(8): Show TTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0141 a0001c0002t0023g0141	1	388	0.0026	15	c.207 others(30): Show c.207+535_207+549dupCTTCTCTTCTCTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296147	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0255 a0001c0002t0017g0255	1	388	0.0026	15	c.207 others(30): Show c.207+512_207+513insTCTTTCTTTCTTTCT	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(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00544.hp2 others(42): Show HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG01256.hp2 HG01928.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02698.hp1 HG02970.hp1 HG03130.hp2 HG03209.hp1 HG03834.hp2 NA18612.hp2 NA18943.hp1 NA18948.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18968.hp2 NA18969.hp1 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18993.hp2 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19081.hp1 NA19085.hp2 NA19088.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0004c0007 others(1): Show a0001c0001 a0001c0002 a0004c0007 a0006c0010	a0001c0001t0008 a0001c0001t0033 a0001c0001t0037 others(8): Show a0001c0001t0008 a0001c0001t0033 a0001c0001t0037 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0020 a0001c0002t0027 a0004c0007t0008 a0006c0010t0003	a0001c0001t0008g0119 a0001c0001t0008g0150 a0001c0001t0008g0154 others(41): Show a0001c0001t0008g0119 a0001c0001t0008g0150 a0001c0001t0008g0154 a0001c0001t0033g0031 a0001c0001t0037g0165 a0001c0002t0002g0026 a0001c0002t0002g0073 a0001c0002t0002g0076 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0124 a0001c0002t0002g0212 a0001c0002t0002g0249 a0001c0002t0003g0007 a0001c0002t0003g0146 a0001c0002t0003g0151 a0001c0002t0003g0155 a0001c0002t0003g0159 a0001c0002t0003g0166 a0001c0002t0003g0170 a0001c0002t0003g0173 a0001c0002t0003g0178 a0001c0002t0003g0184 a0001c0002t0003g0195 a0001c0002t0003g0199 a0001c0002t0003g0204 a0001c0002t0004g0042 a0001c0002t0004g0207 a0001c0002t0004g0238 a0001c0002t0004g0250 a0001c0002t0004g0251 a0001c0002t0004g0257 a0001c0002t0004g0260 a0001c0002t0004g0261 a0001c0002t0004g0263 a0001c0002t0004g0272 a0001c0002t0004g0310 a0001c0002t0004g0347 a0001c0002t0016g0193 a0001c0002t0020g0208 a0001c0002t0020g0253 a0001c0002t0027g0271 a0004c0007t0008g0186 a0006c0010t0003g0206	45	388	0.1160	15	c.208 others(32): Show c.208-1636_208-1622dupAAAAAAAAAAAAAAA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFPL4A_chr19_55754097_55768421	55759694	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	462	0.0022	15	c.-10 others(30): Show c.-10+522_-10+523insTTTTTTTTTTTTTTT	RFPL4A	ENSG00000223638.4	transcript	ENST00000434937.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
RFTN1_chr3_16310845_16518699	16313205	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01516.hp1 others(9): Show HG00735.hp1 HG01081.hp2 HG01516.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02735.hp2 HG02976.hp2 HG03195.hp1 HG03516.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0004 a0002c0003t0009 a0002c0003t0003 a0002c0003t0004 a0002c0003t0009	a0002c0003t0003g0021 a0002c0003t0003g0043 a0002c0003t0003g0139 others(9): Show a0002c0003t0003g0021 a0002c0003t0003g0043 a0002c0003t0003g0139 a0002c0003t0003g0246 a0002c0003t0004g0036 a0002c0003t0004g0099 a0002c0003t0004g0135 a0002c0003t0004g0168 a0002c0003t0004g0171 a0002c0003t0004g0245 a0002c0003t0004g0249 a0002c0003t0009g0103	12	268	0.0448	15	c.36 others(26): Show c.3608_*3622dupAAAAAAAAAAAAAAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding		2639		chr3	TogoVar
RFTN1_chr3_16310845_16518699	16345301	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0135 a0002c0003t0004g0135	1	268	0.0037	15	c.114 others(36): Show c.1146+12630_1146+12631insCACACACACACACAC	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16387568	A A	ACTCTCTC others(8): Show ACTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp2 NA18951.hp1 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0255 a0001c0002t0002g0164 a0001c0002t0002g0255	2	268	0.0075	15	c.442 others(32): Show c.442-9467_442-9466insGAGAGAGAGAGAGAG	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16387570	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0174 a0002c0003t0003g0174	1	268	0.0037	15	c.442 others(32): Show c.442-9469_442-9468insGAGAGAGAGAGAGAG	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16403967	A A	AATATATA others(8): Show AATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	268	0.0037	15	c.441 others(32): Show c.441+5407_441+5408insATATATATTATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404092	T T	TAATATAT others(8): Show TAATATATATTTTATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01358.hp2 HG00642.hp1 HG01099.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0150	3	268	0.0112	15	c.441 others(32): Show c.441+5282_441+5283insTATAAAATATATATT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404132	A A	ATTTTATA others(8): Show ATTTTATATATAATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	268	0.0037	15	c.441 others(32): Show c.441+5242_441+5243insATATTATATATAAAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197625663	T T	TCTCTCCT others(8): Show TCTCTCCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG04199.hp2 HG06807.hp2 others(2): Show HG02165.hp1 HG04199.hp2 HG06807.hp2 NA18950.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001	a0001c0001t0003g0173 a0001c0001t0006g0158 a0001c0001t0008g0008 others(2): Show a0001c0001t0003g0173 a0001c0001t0006g0158 a0001c0001t0008g0008 a0001c0002t0001g0251 a0001c0002t0001g0287	5	312	0.0160	15	c.928 others(32): Show c.928+5333_928+5347dupGAGAGGAGAGGAGAG	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	5/8			chr2	TogoVar
RFTN2_chr2_197563224_197680587	197625699	C C	CTCTCCTC others(8): Show CTCTCCTCTCCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00738.hp1 others(18): Show HG00099.hp2 HG00639.hp1 HG00738.hp1 HG01069.hp2 HG01081.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp2 HG02280.hp2 HG02559.hp1 HG02698.hp2 HG02976.hp1 HG03516.hp2 HG04115.hp2 NA18946.hp2 NA18950.hp1 NA19030.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0003c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0002t0002 a0001c0002t0007 a0001c0009t0002 a0003c0004t0002	a0001c0001t0002g0048 a0001c0001t0002g0095 a0001c0001t0002g0128 others(18): Show a0001c0001t0002g0048 a0001c0001t0002g0095 a0001c0001t0002g0128 a0001c0001t0002g0143 a0001c0001t0002g0153 a0001c0001t0002g0166 a0001c0001t0002g0279 a0001c0001t0002g0297 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0007g0082 a0001c0001t0007g0098 a0001c0001t0013g0054 a0001c0001t0013g0107 a0001c0001t0018g0300 a0001c0001t0019g0036 a0001c0002t0002g0196 a0001c0002t0002g0264 a0001c0002t0007g0232 a0001c0009t0002g0309 a0003c0004t0002g0131	21	312	0.0673	15	c.928 others(32): Show c.928+5311_928+5312insAGAGAGGAGAGGAGA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	5/8			chr2	TogoVar
RFTN2_chr2_197563224_197680587	197629702	A A	ATTTATTT others(8): Show ATTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18951.hp2 NA18990.hp2 NA18946.hp2 NA18951.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0286 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0286	3	312	0.0096	15	c.928 others(32): Show c.928+1294_928+1308dupATAAAATAAAATAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	5/8			chr2	TogoVar
RFWD3_chr16_74616399_74671877	74637122	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp2 HG01257.hp2 others(1): Show HG00140.hp1 HG01192.hp2 HG01257.hp2 HG01433.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0044 a0001c0005t0007g0089 a0001c0005t0007g0108 others(1): Show a0001c0005t0007g0044 a0001c0005t0007g0089 a0001c0005t0007g0108 a0001c0005t0007g0109	4	412	0.0097	15	c.119 others(32): Show c.1195-560_1195-546dupTTTTTTTTTTTTTTT	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	7/12			chr16	TogoVar
RFX2_chr19_5988164_6115500	5990541	A A	AGGGGCGG others(8): Show AGGGGCGGGGCGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	308	0.0033	15	c.42 others(26): Show c.4293_*4294insGTCCCGCCCCGCCCC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding		2622		chr19	TogoVar
RFX2_chr19_5988164_6115500	5990541	A A	AGGGGCGG others(8): Show AGGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(135): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18964.hp2 NA18966.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18983.hp1 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19064.hp1 NA19065.hp2 NA19077.hp2 NA19085.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0006 a0003c0005 a0004c0009 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 a0001c0003t0014 a0001c0004t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0006t0003 a0003c0005t0001 a0003c0005t0003 a0004c0009t0002 a0004c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0024 others(134): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0270 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0104 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0188 a0001c0001t0002g0196 a0001c0001t0002g0227 a0001c0001t0002g0299 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0233 a0001c0001t0004g0247 a0001c0001t0005g0303 a0001c0001t0006g0026 a0001c0001t0006g0158 a0001c0001t0006g0173 a0001c0001t0006g0217 a0001c0001t0007g0013 a0001c0001t0007g0267 a0001c0001t0008g0301 a0001c0001t0017g0239 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0265 a0001c0003t0004g0262 a0001c0003t0004g0264 a0001c0003t0004g0268 a0001c0003t0004g0269 a0001c0003t0004g0275 a0001c0003t0011g0263 a0001c0003t0014g0261 a0001c0004t0001g0038 a0001c0004t0001g0280 a0001c0004t0001g0283 a0001c0007t0001g0107 a0001c0007t0001g0273 a0002c0002t0001g0071 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0199 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0231 a0002c0002t0001g0295 a0002c0002t0002g0001 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0087 a0002c0002t0002g0201 a0002c0002t0002g0207 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0081 a0002c0002t0003g0098 a0002c0002t0003g0125 a0002c0002t0007g0126 a0002c0002t0008g0062 a0002c0006t0003g0095 a0002c0006t0003g0096 a0003c0005t0001g0045 a0003c0005t0003g0020 a0004c0009t0002g0284 a0004c0014t0002g0251	138	308	0.4481	15	c.42 others(26): Show c.4293_*4294insGCCCCGCCCCGCCCC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding		2622		chr19	TogoVar
RFX4_chr12_106578004_106767803	106687549	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0148 a0001c0002t0006g0148	1	296	0.0034	15	c.591 others(30): Show c.591+454_591+468dupAAAAAAAAAAAAAAA	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX4_chr12_106578004_106767803	106714068	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp1 HG01943.hp2 others(11): Show HG01175.hp1 HG01243.hp1 HG01943.hp2 HG02280.hp2 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03516.hp1 NA18906.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0002c0005t0001	a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0028 others(11): Show a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0028 a0001c0002t0001g0050 a0001c0003t0001g0018 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0230 a0001c0004t0001g0009 a0001c0004t0001g0010 a0001c0004t0001g0011 a0002c0005t0001g0061	14	296	0.0473	15	c.994 others(32): Show c.994-1323_994-1309dupAAAAAAAAAAAAAAA	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX6_chr6_116872242_116937161	116936488	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA19088.hp1 HG01109.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	372	0.0054	15	c.49 others(26): Show c.4982_*4983insGAGAGAGAGAGAGAG	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding		4328		chr6	TogoVar
RFX7_chr15_56082280_56248879	56224467	T T	TTTGTGTG others(8): Show TTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0110 a0004c0008t0002g0110	1	360	0.0028	15	c.161 others(34): Show c.161+18657_161+18658insCACACACACACACAA	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	2/9			chr15	TogoVar
RFX8_chr2_101392359_101480112	101394627	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0171 a0003c0003t0001g0171	1	352	0.0028	15	c.29 others(26): Show c.2920_*2921insGAAAGAAAGAAAGAA	RFX8	ENSG00000196460.14	transcript	ENST00000428343.6	protein_coding		2731		chr2	TogoVar
RGCC_chr13_41452550_41475871	41469264	G G	GTAATAAT others(8): Show GTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	448	0.0022	15	c.406 others(30): Show c.406+445_406+459dupTAATAATAATAATAA	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
RGCC_chr13_41452550_41475871	41469295	T T	TAATAAGA others(8): Show TAATAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp2 HG01884.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	2	448	0.0045	15	c.406 others(30): Show c.406+459_406+460insTAAGAAGAAGAAGAA	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
RGL3_chr19_11389060_11424314	11403690	G G	GAAGCCAG others(8): Show GAAGCCAGACCACCTT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0204 a0003c0006t0001g0204	1	402	0.0025	15	c.118 others(32): Show c.1186-999_1186-985dupAAGGTGGTCTGGCTT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	9/18			chr19	TogoVar
RGN_chrX_47073443_47098313	47074256	A A	AAAGAAAG others(8): Show AAAGAAAGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	304	0.0033	15	c.-50 others(26): Show c.-5089_-5088insAAGAAAGAAGGAAGG	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding		4186		chrX	TogoVar
RGPD2_chr2_87750960_87830796	87824714	G G	GGCCGCCG others(8): Show GGCCGCCGCCGCCGCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0012 a0001c0019t0012	a0001c0019t0012g0037 a0001c0019t0012g0037	1	176	0.0057	15	c.72+ others(28): Show c.72+929_72+943dupGGCGGCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD2_chr2_87750960_87830796	87824742	G G	GGCCGCCG others(8): Show GGCCGCCGCCGCCGCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02273.hp2 HG02738.hp1 HG01993.hp1 HG02273.hp2 HG02738.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0028 a0001c0001 a0012c0028	a0001c0001t0001 a0012c0028t0001 a0001c0001t0001 a0012c0028t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0012c0028t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0012c0028t0001g0097	3	176	0.0171	15	c.72+ others(28): Show c.72+901_72+915dupGGCGGCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD2_chr2_87750960_87830796	87824825	G G	GGCCGAGG others(8): Show GGCCGAGGCCGCCGCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	176	0.0057	15	c.72+ others(28): Show c.72+832_72+833insGGCGGCGGCCTCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar

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